MCCC1

Summary

Gene Symbol: MCCC1
Description: methylcrotonoyl-CoA carboxylase 1
Alias: MCC-B, MCCA, methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial, 3-methylcrotonyl-CoA carboxylase 1, 3-methylcrotonyl-CoA carboxylase biotin-containing subunit, 3-methylcrotonyl-CoA:carbon dioxide ligase subunit alpha, MCCase subunit alpha, methylcrotonoyl-CoA carboxylase 1 (alpha), methylcrotonoyl-CoA carboxylase alpha, methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)
Species: human
Products:     MCCC1

Top Publications

  1. Nalls M, Plagnol V, Hernandez D, Sharma M, Sheerin U, Saad M, et al. Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet. 2011;377:641-9 pubmed publisher
    ..identified loci (MAPT, SNCA, HLA-DRB5, BST1, GAK and LRRK2) and five were newly identified loci (ACMSD, STK39, MCCC1/LAMP3, SYT11, and CCDC62/HIP1R). The combined population-attributable risk was 60·3% (95% CI 43·7-69·3)...
  2. Wang X, Zhao N, Shi J, Wu Y, Liu J, Xiao Q, et al. Discussion on the Application of Multi-modal Magnetic Resonance Imaging Fusion in Schizophrenia. J Med Syst. 2019;43:131 pubmed publisher
    ..magnetic resonance imaging (MRI) fusion technology in schizophrenia, a 4-way multi-modal fusion method based on mCCA+jICA is used to fuse the local consistency and functional network connection of resting-state functional MRI, gray ..
  3. Bouloussa H, Pietton R, Vergari C, Haen T, Skalli W, Vialle R. Biplanar stereoradiography predicts pulmonary function tests in adolescent idiopathic scoliosis: a cross-sectional study. Eur Spine J. 2019;: pubmed publisher
    ..maximum width, mean thoracic index, spinal penetration index, apical vertebral rotation, main curve Cobb angle (MCCA), T4-T12 kyphosis. The primary outcome was the relationship between rib cage parameters and PFT...
  4. Lauterbach E. Psychotropic drug effects on gene transcriptomics relevant to Parkinson's disease. Prog Neuropsychopharmacol Biol Psychiatry. 2012;38:107-15 pubmed publisher
    ..HIP1R); downregulates microtubule-associated protein tau (MAPT), methylcrotonoyl-coenzyme A carboxylase I (MCCC1), GSTM1, 28kDa calbindin 1 (CALB1))...
  5. De Groof V, Coma M, Arnot T, Leak D, Lanham A. Medium Chain Carboxylic Acids from Complex Organic Feedstocks by Mixed Culture Fermentation. Molecules. 2019;24: pubmed publisher
    ..The review evaluates the key findings of MCCA production using MMC, and concludes by identifying critical research targets to drive forward this promising ..
  6. Groff A, Barutcu A, Lewandowski J, Rinn J. Enhancers in the Peril lincRNA locus regulate distant but not local genes. Genome Biol. 2018;19:219 pubmed publisher
    ..We find that ablation of a high-activity MPRA peak in the Peril gene body leads to consistent dysregulation of Mccc1 and Exosc9 in the neighboring topologically associated domain (TAD)...
  7. Bhatia S, Miller N, Lu H, Longino N, Ibrani D, Shinohara M, et al. Intratumoral G100, a TLR4 Agonist, Induces Antitumor Immune Responses and Tumor Regression in Patients with Merkel Cell Carcinoma. Clin Cancer Res. 2019;25:1185-1195 pubmed publisher
    ..In this first-in-human study, IT G100 induced antitumor immune responses, demonstrated acceptable safety, and showed encouraging clinical activity.See related commentary by Marquez-Rodas et al., p. 1127. ..
  8. Soler Cataluña J, Marzo M, Catalan P, Miralles C, Alcázar B, Miravitlles M. Validation of clinical control in COPD as a new tool for optimizing treatment. Int J Chron Obstruct Pulmon Dis. 2018;13:3719-3731 pubmed publisher
    ..589). The new MCC identified a higher number of controlled COPD patients. These patients have a better quality of life and lower risk of poor outcomes. The concept of control and the new MCC could be a useful tool to optimize therapy. ..
  9. de Cheveigné A, Di Liberto G, Arzounian D, Wong D, Hjortkjær J, Fuglsang S, et al. Multiway canonical correlation analysis of brain data. Neuroimage. 2019;186:728-740 pubmed publisher
    ..Multiway canonical correlation analysis (MCCA) brings a solution to this problem by allowing data from multiple subjects to be fused in such a way as to extract ..

More Information

Publications66

  1. Cuadrado Godia E, Maniruzzaman M, Araki T, Puvvula A, Jahanur Rahman M, Saba L, et al. Morphologic TPA (mTPA) and composite risk score for moderate carotid atherosclerotic plaque is strongly associated with HbA1c in diabetes cohort. Comput Biol Med. 2018;101:128-145 pubmed publisher
    ..left common carotid artery (LCCA), right carotid artery (RCCA), and mean of left and right common carotid artery (MCCA). After adjusting the FBS, the OR for mTPA showed a higher risk for LCCA, RCCA, and MCCA...
  2. Lill C, Roehr J, McQueen M, Kavvoura F, Bagade S, Schjeide B, et al. Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database. PLoS Genet. 2012;8:e1002548 pubmed publisher
    ..significant (P < 5 × 10(-8)) association with disease risk: BST1, CCDC62/HIP1R, DGKQ/GAK, GBA, LRRK2, MAPT, MCCC1/LAMP3, PARK16, SNCA, STK39, and SYT11/RAB25...
  3. Eller J, Hein S, Simon J. Significance of MccR, MccC, MccD, MccL and 8-methylmenaquinone in sulfite respiration of Wolinella succinogenes. Biochim Biophys Acta Bioenerg. 2019;1860:12-21 pubmed publisher
    ..Epsilonproteobacterium Wolinella succinogenes uses the copper-containing octahaem cytochrome c sulfite reductase MccA to respire sulfite...
  4. Grünert S, Stucki M, Morscher R, Suormala T, Bürer C, Burda P, et al. 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. Orphanet J Rare Dis. 2012;7:31 pubmed publisher
    ..carboxylase (MCC) deficiency is an autosomal recessive disorder of leucine metabolism caused by mutations in MCCC1 or MCCC2 encoding the α and β subunit of MCC, respectively...
  5. Greco F, Hainsworth J. Renal Cell Carcinoma Presenting as Carcinoma of Unknown Primary Site: Recognition of a Treatable Patient Subset. Clin Genitourin Cancer. 2018;16:e893-e898 pubmed publisher
    ..and response to RCC-specific treatment in CUP patients identified as RCC using a molecular cancer classifier assay (MCCA). All CUP patients who had an MCCA performed between 2008 and 2013 at a single institution were reviewed...
  6. Ye J, Gong L, Han L, Qiu W, Zhang H, Gao X, et al. [Follow up and gene mutation analysis in cases suspected as 3-methylcrotonyl-coenzyme A carboxylase deficiency by neonatal screening]. Zhonghua Er Ke Za Zhi. 2014;52:409-14 pubmed
    ..The MCCC1 and MCCC2 gene mutation were analyzed for some cases...
  7. Zukher I, Novikova M, Tikhonov A, Nesterchuk M, Osterman I, Djordjevic M, et al. Ribosome-controlled transcription termination is essential for the production of antibiotic microcin C. Nucleic Acids Res. 2014;42:11891-902 pubmed publisher
    ..The heptapeptide MccA is converted into McC by adenylation catalyzed by the MccB enzyme...
  8. von Specht M, Gardella N, Ubeda C, Grenon S, Gutkind G, Mollerach M. Community-associated methicillin-resistant Staphylococcus aureus skin and soft tissue infections in a pediatric hospital in Argentina. J Infect Dev Ctries. 2014;8:1119-28 pubmed publisher
    ..bacteriological, and molecular data were collected and analyzed by multiple correspondences and cluster analysis (MCCA). A total of 138 children were enrolled; 55.8% of the children required hospitalization...
  9. Greco F, Lennington W, Spigel D, Hainsworth J. Poorly differentiated neoplasms of unknown primary site: diagnostic usefulness of a molecular cancer classifier assay. Mol Diagn Ther. 2015;19:91-7 pubmed publisher
    ..Gene expression profiling and a molecular cancer classifier assay (MCCA) may provide a new method of diagnosis when standard pathologic evaluation and immunohistochemical (IHC) staining ..
  10. Gross S, Tibshirani R. Collaborative regression. Biostatistics. 2015;16:326-38 pubmed publisher
    ..has been proposed for dealing with these type of data is "sparse multiple canonical correlation analysis" (sparse mCCA)...
  11. Luo H, Zhao H, Chang Y, Wang Q, Yu H, Shen Z. Oriented immobilization and characterization of a poly-lysine-tagged cephalosporin C acylase on glyoxyl agarose support. Appl Biochem Biotechnol. 2015;175:2114-23 pubmed publisher
    ..A mutant of cephalosporin C acylase (mCCA) has been designed to fuse a poly-lysine tag to the C-terminal of the β-subunit, which is far away from the ..
  12. Tettey R, Ayeh Kumi P, Tettey P, Adjei G, Asmah R, Dodoo D. Severity of malaria in relation to a complement receptor 1 polymorphism: a case-control study. Pathog Glob Health. 2015;109:247-52 pubmed publisher
    ..Effect of Sl and McC genotypes on the clinical outcome of malaria was evaluated using logistic regression. McCa/b genotype was significantly associated with more than two-fold increased susceptibility for severe malaria (OR = 2...
  13. Collins Fekete C, Plamondon M, Martin A, Vigneault Ã, Verhaegen F, Beaulieu L. Calcifications in low-dose rate prostate seed brachytherapy treatment: post-planning dosimetry and predictive factors. Radiother Oncol. 2015;114:339-44 pubmed publisher
    ..Five dose calculation scenarios are presented: MC in water (MCW), MCW with calcifications, (MCCA), MCCA with seeds (MCCASEED) and full tissue definition and seeds with dose to medium in medium (FMC) and dose to ..
  14. Thomsen J, Lund A, Olesen J, Mohr M, Rasmussen J. Is L-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency?. JIMD Rep. 2015;21:79-88 pubmed publisher
    ..All patients were homozygous for the MCCC1 mutation c.1526delG...
  15. Cao Z, Xia Z, Zhou Y, Yang X, Hao H, Peng N, et al. Methylcrotonoyl-CoA carboxylase 1 potentiates RLR-induced NF-?B signaling by targeting MAVS complex. Sci Rep. 2016;6:33557 pubmed publisher
    ..Here we show that the biotin-containing enzyme methylcrotonoyl-CoA carboxylase 1 (MCCC1) enhances virus-induced, MAVS-mediated IFN and inflammatory cytokine expression through the NF-?B signaling ..
  16. Zaganjor E, Vyas S, Haigis M. SIRT4 Is a Regulator of Insulin Secretion. Cell Chem Biol. 2017;24:656-658 pubmed publisher
    ..that SIRT4 regulates insulin sensitivity in the pancreas via activation of methylcrotonyl-CoA carboxylase 1 (MCCC1) by removal of dicarboxyacyl-lysine modifications...
  17. Xie B, Luo J, Lei Y, Chen R, Wang J, Zhang S, et al. [A novel compound heterozygous mutation causing 3-methylcrotonyl-CoA carboxylase deficiency]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016;33:657-61 pubmed publisher
    ..PCR and Sanger sequencing were used to identify potential mutations of MCCC1 and MCCC2 genes...
  18. Lucas Sandri T, Adukpo S, Giang D, Nguetse C, Antunes Andrade F, Tong H, et al. Geographical distribution of complement receptor type 1 variants and their associated disease risk. PLoS ONE. 2017;12:e0175973 pubmed publisher
    ..Five distinct CR1 nucleotide substitutions determine the Knops blood group phenotypes, namely Kna/b, McCa/b, Sl1/Sl2, Sl4/Sl5 and KCAM+/-...
  19. Sajuthi S, Sharma N, Chou J, Palmer N, McWilliams D, Beal J, et al. Mapping adipose and muscle tissue expression quantitative trait loci in African Americans to identify genes for type 2 diabetes and obesity. Hum Genet. 2016;135:869-80 pubmed publisher
    ..of GWAS meta-analysis data from AA cohorts revealed the most significant association for cis-eSNPs of ATP5SL and MCCC1 genes, with T2D and BMI, respectively...
  20. Yamazaki J, Taby R, Jelinek J, Raynal N, Cesaroni M, Pierce S, et al. Hypomethylation of TET2 Target Genes Identifies a Curable Subset of Acute Myeloid Leukemia. J Natl Cancer Inst. 2015;108: pubmed publisher
    ..We used bisulfite pyrosequencing to analyze the methylation status of four tet2-DMCs (SP140, MCCC1, EHMT1, and MTSS1) in a test group of 94 consecutive patients and a validation group of 92 consecutive patients ..
  21. He H, Sui J, Du Y, Yu Q, Lin D, Drevets W, et al. Co-altered functional networks and brain structure in unmedicated patients with bipolar and major depressive disorders. Brain Struct Funct. 2017;222:4051-4064 pubmed publisher
    ..A data-driven fusion method called mCCA+jICA was used to identify the co-altered FNC and gray matter components...
  22. Opi D, Uyoga S, Orori E, Williams T, Rowe J. Red blood cell complement receptor one level varies with Knops blood group, α(+)thalassaemia and age among Kenyan children. Genes Immun. 2016;17:171-8 pubmed publisher
    ..RBC CR1 level in malaria-endemic African populations is a complex phenotype influenced by multiple factors that should be taken into account in the design and interpretation of future studies on CR1 and malaria susceptibility. ..
  23. Rips J, Almashanu S, Mandel H, Josephsberg S, Lerman Sagie T, Zerem A, et al. Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program. J Inherit Metab Dis. 2016;39:211-7 pubmed publisher
    ..0009). Most of the mutations identified in the MCCC1 and MCCC2 genes were missense, five of them were novel...
  24. Smon A, Repič Lampret B, Groselj U, Zerjav Tansek M, Kovac J, Perko D, et al. Next generation sequencing as a follow-up test in an expanded newborn screening programme. Clin Biochem. 2018;52:48-55 pubmed publisher
    ..of 3-methylcrotonyl-CoA carboxylase deficiency, 2 of them had known causative homozygous variants in MCCC1. The other seven were heterozygous; two had a novel genetic variant c.149_151dupCCA (p.Thr50dup)...
  25. Bantysh O, Serebryakova M, Zukher I, Kulikovsky A, Tsibulskaya D, Dubiley S, et al. Enzymatic Synthesis and Functional Characterization of Bioactive Microcin C-Like Compounds with Altered Peptide Sequence and Length. J Bacteriol. 2015;197:3133-41 pubmed publisher
    ..McC is synthesized by the MccB enzyme, which terminally adenylates the MccA heptapeptide precursor MRTGNAN...
  26. Järvinen E, Ismail K, Muniandy M, Bogl L, Heinonen S, Tummers M, et al. Biotin-dependent functions in adiposity: a study of monozygotic twin pairs. Int J Obes (Lond). 2016;40:788-95 pubmed publisher
    ..The gene expression levels of carboxylases, PCCB and MCCC1, were upregulated in the heavier co-twins' leukocytes. ΔPCCB (r=0.91, P=0.0046) and ΔMCCC1 (r=0.79, P=0...
  27. Davis A, Andruska K, Benítez B, Racette B, Perlmutter J, Cruchaga C. Variants in GBA, SNCA, and MAPT influence Parkinson disease risk, age at onset, and progression. Neurobiol Aging. 2016;37:209.e1-209.e7 pubmed publisher
    ..Markers Initiative) to determine whether polymorphisms located at the GWAS top hits (GBA, ACMSD/TMEM163, STK39, MCCC1/LAMP3, GAK/TMEM175, SNCA, and MAPT) show association with AAO or motor progression...
  28. Zhu X, Cao L, Tan M, Jiang T, Wang H, Lu H, et al. Association of Parkinson's Disease GWAS-Linked Loci with Alzheimer's Disease in Han Chinese. Mol Neurobiol. 2017;54:308-318 pubmed publisher
    ..AD (LOAD) susceptibility and nine single-nucleotide polymorphisms (SNPs) (rs11724635 of BST1, rs12637471 of MCCC1, rs15553999 of TMEM229, rs17649553 of MAPT, rs34311866 of TMEM175-GAK-DGKQ, rs356182 of SNCA, rs6430538 of ACMSD-..
  29. Dantas M, Suormala T, Randolph A, Coelho D, Fowler B, Valle D, et al. 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. Hum Mutat. 2005;26:164 pubmed
    ..heteromeric mitochondrial enzyme composed of biotin containing alpha subunits and smaller beta subunits, encoded by MCCA and MCCB, respectively...
  30. Li N, Tan E, Chang X, Mao X, Zhao D, Zhang J, et al. MCCC1/LAMP3 reduces risk of sporadic Parkinson's disease in Han Chinese. Acta Neurol Scand. 2013;128:136-9 pubmed publisher
    A recent large-scale replication and heterogeneity study reported the new described GWAS locus (MCCC1/LAMP3 rs11711441) was associated with a reduced risk of Parkinson disease (PD) in Asian and Caucasian populations...
  31. Tong L. Structure and function of biotin-dependent carboxylases. Cell Mol Life Sci. 2013;70:863-91 pubmed publisher
    ..This review will summarize the recent advances in our knowledge on the structure and function of these important metabolic enzymes. ..
  32. Foo J, Tan L, Irwan I, Au W, Low H, Prakash K, et al. Genome-wide association study of Parkinson's disease in East Asians. Hum Mol Genet. 2017;26:226-232 pubmed publisher
    ..We observed strong associations reaching genome-wide significance at SNCA, LRRK2 and MCCC1, confirming their important roles in both European and Asian PD. We also identified significant (P?<?0...
  33. Yang L, Yang J, Zhang T, Weng C, Hong F, Tong F, et al. Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency. Clin Genet. 2015;88:484-8 pubmed publisher
    ..MCC) deficiency is an autosomal recessive inborn error of leucine metabolism, caused by mutations in either MCCC1 or MCCC2 gene...
  34. Wang L, Cheng L, Lu Z, Sun X, Li J, Peng R. Association of three candidate genetic variants in RAB7L1/NUCKS1, MCCC1 and STK39 with sporadic Parkinson's disease in Han Chinese. J Neural Transm (Vienna). 2016;123:425-30 pubmed publisher
    Previous studies identified that polymorphisms RAB7L1/NUCKS1 rs823118, MCCC1 rs12637471 and STK39 rs1955337 to be the risk loci for Parkinson's disease (PD) in a Caucasian population...
  35. Eminoglu F, Ozcelik A, Okur I, Tumer L, Biberoglu G, Demir E, et al. 3-Methylcrotonyl-CoA carboxylase deficiency: phenotypic variability in a family. J Child Neurol. 2009;24:478-81 pubmed publisher
    ..Mutation analysis revealed a large homozygous deletion of 2264 bp (c.873+4524_6787de12264) in the MCCA gene, which has not been described to date. Adult-onset afebrile seizures have not been reported in the literature...
  36. Stadler S, Polanetz R, Meier S, Mayerhofer P, Herrmann J, Anslinger K, et al. Mitochondrial targeting signals and mature peptides of 3-methylcrotonyl-CoA carboxylase. Biochem Biophys Res Commun. 2005;334:939-46 pubmed
    ..Structural requirements for mitochondrial import were defined by site-directed mutagenesis. Our studies provide the prerequisite to understand the impact of specific mutations on the clinical phenotype of MCC deficiency. ..
  37. Ferrareze Nunes C, Beer Furlan A, Doglietto F, Carrau R, Prevedello D. The McConnell's Capsular Arteries and Their Relevance in Endoscopic Endonasal Approach to the Sellar Region. Oper Neurosurg (Hagerstown). 2017;: pubmed publisher
    The McConnell's capsular arteries (MCCA) were first described in 1953. They consist of medial branches of the cavernous internal carotid artery (ICA) and are divided in anterior and inferior capsular arteries.
  38. Holzinger A, Roschinger W, Lagler F, Mayerhofer P, Lichtner P, Kattenfeld T, et al. Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency. Hum Mol Genet. 2001;10:1299-306 pubmed
    ..The 2580 bp MCCA cDNA encodes the 725 amino acid biotin-containing alpha-subunit...
  39. Stucki M, Suormala T, Fowler B, Valle D, Baumgartner M. Cryptic exon activation by disruption of exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency. J Biol Chem. 2009;284:28953-7 pubmed publisher
    ..MCC is a heteromeric mitochondrial enzyme composed of biotin-containing alpha (MCCA) and smaller beta (MCCB) subunits encoded by MCCA and MCCB, respectively. We report studies of the c...
  40. Abrol A, Rashid B, Rachakonda S, Damaraju E, Calhoun V. Schizophrenia Shows Disrupted Links between Brain Volume and Dynamic Functional Connectivity. Front Neurosci. 2017;11:624 pubmed publisher
    ..through a symmetric multimodal fusion approach involving a combination of multiset canonical correlation analysis (mCCA) and joint ICA (jICA)...
  41. Stakaityte G, Nwogu N, Dobson S, Knight L, Wasson C, Salguero F, et al. Merkel Cell Polyomavirus Small T Antigen Drives Cell Motility via Rho-GTPase-Induced Filopodium Formation. J Virol. 2018;92: pubmed publisher
    ..These findings may therefore provide novel strategies for therapeutic intervention for disseminated MCC. ..
  42. Gallardo M, Desviat L, Rodriguez J, Esparza Gordillo J, Perez Cerda C, Perez B, et al. The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. Am J Hum Genet. 2001;68:334-46 pubmed
    ..Here we report the characterization, at the genomic level and at the cDNA level, of both the MCCA gene and the MCCB gene, encoding the MCC alpha and MCC beta subunits, respectively...
  43. Nguyen K, Naviaux R, Patra S, Barshop B, Nyhan W. Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria. Mol Genet Metab. 2011;102:218-21 pubmed publisher
    ..Here we identified two novel MCCA (exon 3: c.137G>A; p.46G>E), (IVS7-1G>A splice site mutation), and four novel MCCB (exon 11: c...
  44. Gong L, Ye J, Han L, Qiu W, Zhang H, Gao X, et al. [Clinical and mutational features of maternal 3-methylcrotonyl coenzyme deficiency]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013;30:574-8 pubmed publisher
    ..e., c.ins1680A(25%), c.203C > T (p.A68V), c.572T > C (p.L191P) and c.639+5G > T were detected in the MCCC1 gene, in addition with 2 mutations [c.1406G > T (p.R469L, novel variation) and c.592C > T (p.Q198X)]...
  45. Lerman Sinkoff D, Sui J, Rachakonda S, Kandala S, Calhoun V, Barch D. Multimodal neural correlates of cognitive control in the Human Connectome Project. Neuroimage. 2017;163:41-54 pubmed publisher
    ..In this study, we used multiset canonical correlation analysis with joint independent component analysis (mCCA + jICA) to identify multimodal patterns of variation related to cognitive control...
  46. Zandberg L, van Dyk H, van der Westhuizen F, van Dijk A. A 3-methylcrotonyl-CoA carboxylase deficient human skin fibroblast transcriptome reveals underlying mitochondrial dysfunction and oxidative stress. Int J Biochem Cell Biol. 2016;78:116-129 pubmed publisher
    ..Apart from extensive mutation analyses of the MCCC1 and MCCC2 genes encoding 3-methylcrotonyl-CoA carboxylase (EC 6.4.1...
  47. Luís P, Ruiter J, IJlst L, Diogo L, Garcia P, de Almeida I, et al. Inhibition of 3-methylcrotonyl-CoA carboxylase explains the increased excretion of 3-hydroxyisovaleric acid in valproate-treated patients. J Inherit Metab Dis. 2012;35:443-9 pubmed publisher
    ..These interactions may be associated with the skin rash and hair loss which are side effects often reported in VPA-treated patients. ..
  48. Obata K, Fukuda T, Morishita R, Abe S, Asakawa S, Yamaguchi S, et al. Human biotin-containing subunit of 3-methylcrotonyl-CoA carboxylase gene (MCCA): cDNA sequence, genomic organization, localization to chromosomal band 3q27, and expression. Genomics. 2001;72:145-52 pubmed
    ..carried out chromosomal mapping of the gene for the biotin-containing subunit (A subunit) of the human MCCase gene, MCCA. The cDNA predicts an open reading frame coding for a 725-amino-acid protein with mitochondrial signal peptide, ..
  49. Morscher R, Grünert S, Bürer C, Burda P, Suormala T, Fowler B, et al. A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. Mol Genet Metab. 2012;105:602-6 pubmed publisher
    ..Among these, 21 carried a single mutant allele in either MCCC1 (n=20) or MCCC2 (n=1)...
  50. Fonseca H, Azevedo L, Serrano C, Sousa C, Marcao A, Vilarinho L. 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. Gene. 2016;594:203-210 pubmed publisher
    ..Analysis of the MCCC1 and MCCC2 genes yielded 26 previously unreported mutations and a variant of clinically unknown significance...
  51. Elpeleg O, Havkin S, Barash V, Jakobs C, Glick B, Shalev R. Familial hypotonia of childhood caused by isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency. J Pediatr. 1992;121:407-10 pubmed
    ..We conclude that 3-methylcrotonyl-coenzyme A carboxylase deficiency should be added to the list of metabolic causes of familial hypotonia of childhood. ..
  52. Do C, Tung J, Dorfman E, Kiefer A, Drabant E, Francke U, et al. Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. PLoS Genet. 2011;7:e1002141 pubmed publisher
  53. Uematsu M, Sakamoto O, Sugawara N, Kumagai N, Morimoto T, Yamaguchi S, et al. Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. J Hum Genet. 2007;52:1040-3 pubmed
    ..Molecular analyses revealed novel mutations in one of the causative genes, MCCA or MCCB, in all five of the patients: nonsense and frameshift mutations in MCCA (c.1750C > T/c...
  54. Cho S, Park H, Lee Y, Ki C, Lee S, Sohn Y, et al. Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency. Clin Genet. 2012;81:96-8 pubmed publisher
  55. Baumgartner M, Almashanu S, Suormala T, Obie C, Cole R, Packman S, et al. The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. J Clin Invest. 2001;107:495-504 pubmed
    ..Here, we report cloning of MCCA and MCCB cDNAs and the organization of their structural genes...
  56. Chu C, Cheng D. Expression, purification, characterization of human 3-methylcrotonyl-CoA carboxylase (MCCC). Protein Expr Purif. 2007;53:421-7 pubmed