SERAC1

Summary

Gene Symbol: SERAC1
Description: serine active site containing 1
Alias: protein SERAC1, serine active site-containing protein 1
Species: human
Products:     SERAC1

Top Publications

  1. Wortmann S, Vaz F, Gardeitchik T, Vissers L, Renkema G, Schuurs Hoeijmakers J, et al. Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet. 2012;44:797-802 pubmed publisher
    Using exome sequencing, we identify SERAC1 mutations as the cause of MEGDEL syndrome, a recessive disorder of dystonia and deafness with Leigh-like syndrome, impaired oxidative phosphorylation and 3-methylglutaconic aciduria...
  2. Tort F, Garcia Silva M, Ferrer Cortes X, Navarro Sastre A, García Villoria J, Coll M, et al. Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria. Mol Genet Metab. 2013;110:73-7 pubmed publisher
    ..We identified a homozygous variant in SERAC1 (c.202C>T; p.Arg68*), that generates a premature stop codon at position 68 of SERAC1 protein...
  3. Sarig O, Goldsher D, Nousbeck J, Fuchs Telem D, Cohen Katsenelson K, Iancu T, et al. Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1. Am J Med Genet A. 2013;161A:2204-15 pubmed publisher
    ..2-6q26. Using whole exome sequencing, we identified two novel homozygous mutations in SERAC1 recently reported to harbor mutations in MEGDEL syndrome...
  4. Iwanicka Pronicka K, Ciara E, Piekutowska Abramczuk D, Halat P, Pajdowska M, Pronicki M. Congenital cochlear deafness in mitochondrial diseases related to RRM2B and SERAC1 gene defects. A study of the mitochondrial patients of the CMHI hospital in Warsaw, Poland. Int J Pediatr Otorhinolaryngol. 2019;121:143-149 pubmed publisher
    ..This latter subset included patients with pathogenic variants in RRM2B and SERAC1, known as "deafness-causing genes"...
  5. Wortmann S, Kluijtmans L, Sequeira S, Wevers R, Morava E. Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect. JIMD Rep. 2014;16:1-6 pubmed publisher
    ..For all other subtypes, also denoted "Secondary 3-methylglutaconic acidurias" (TAZ defect or Barth syndrome, SERAC1 defect or MEGDEL syndrome, OPA3 defect or Costeff syndrome, DNAJC19 defect or DCMA syndrome, TMEM70 defect, "not ..
  6. Mayr J. Lipid metabolism in mitochondrial membranes. J Inherit Metab Dis. 2015;38:137-44 pubmed publisher
    ..Mutations in TAZ, SERAC1 and AGK affect mitochondrial phospholipid metabolism and cause Barth syndrome, MEGDEL and Sengers syndrome, ..
  7. Wortmann S, Duran M, Anikster Y, Barth P, Sperl W, Zschocke J, et al. Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. J Inherit Metab Dis. 2013;36:923-8 pubmed publisher
    ..protein or the historical name as follows: i) defective phospholipid remodelling (TAZ defect or Barth syndrome, SERAC1 defect or MEGDEL syndrome) and ii) mitochondrial membrane associated disorders (OPA3 defect or Costeff syndrome, ..
  8. Wortmann S, Kluijtmans L, Rodenburg R, Sass J, Nouws J, van Kaauwen E, et al. 3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients. J Inherit Metab Dis. 2013;36:913-21 pubmed publisher
    ..Besides, it was a consistent feature of patients with mutations in TAZ, SERAC1, OPA3, DNAJC19 and TMEM70 accounting for mitochondrial membrane related pathology...
  9. Wortmann S, Espeel M, Almeida L, Reimer A, Bosboom D, Roels F, et al. Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids. J Inherit Metab Dis. 2015;38:99-110 pubmed publisher
    ..of the disorders reported so far (Sengers syndrome (due to mutations in AGK), MEGDEL syndrome (or SERAC defect, SERAC1), Barth syndrome (or TAZ defect, TAZ), congenital muscular dystrophy due to CHKB deficiency (CHKB)...

More Information

Publications23

  1. Kanabus M, Shahni R, Saldanha J, Murphy E, Plagnol V, Hoff W, et al. Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation. J Inherit Metab Dis. 2015;38:211-9 pubmed publisher
    ..kinase deficiency) and MEGDEL syndrome (impaired remodelling of the mitochondrial membrane lipids because of SERAC1 mutations)...
  2. Debnath S, Addya S. REMOVED: In-silico modelling of SERAC1: Protein involved in a developmental neural disorder MEGDEL syndrome characterized by 3-methyl glutaconic aciduria type IV with sensory-neural deafness, encephalopathy and Leigh-like syndrome. Int J Dev Neurosci. 2015;47:1-2 pubmed publisher
    ..Due to an administrative error, abstracts that were not presented at the ISDN 2014 meeting were inadvertently published in the meeting's abstract supplement. The Publisher apologizes to the authors and readers for this error. ..
  3. Pronicka E, Piekutowska Abramczuk D, Ciara E, Trubicka J, Rokicki D, Karkucinska Wieckowska A, et al. New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. J Transl Med. 2016;14:174 pubmed publisher
    ..MTFMT, MTND1, MTND3, MTND5, NAXE, NDUFS6, NDUFS7, NDUFV1, OPA1, PARS2, PC, PDHA1, POLG, RARS2, RRM2B, SCO2, SERAC1, SLC19A3, SLC25A12, TAZ, TMEM126B, VARS2) were identified...
  4. Rodríguez García M, Martín Hernández E, de Aragón A, García Silva M, Quijada Fraile P, Arenas J, et al. First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking. Neurogenetics. 2016;17:51-6 pubmed publisher
    ..Whole-exome sequencing uncovered a new homozygous mutation in the serine active site containing 1 (SERAC1) gene, which is essential for both mitochondrial function and intracellular cholesterol trafficking...
  5. Rokicki D, Pajdowska M, Trubicka J, Thong M, Ciara E, Piekutowska Abramczuk D, et al. 3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency. Clin Chim Acta. 2017;471:95-100 pubmed publisher
    ..for the differential diagnosis of patients with urea cycle disorders and also broaden the differential diagnosis of hyperammonemia associated with 3-methylglutaconic aciduria, which was earlier only reported in TMEM70 and SERAC1 defect.
  6. Zeharia A, Friedman J, Tobar A, Saada A, Konen O, Fellig Y, et al. Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit. Eur J Hum Genet. 2016;24:1778-1782 pubmed publisher
    ..3-Methylglutaconic aciduria is associated with variants in genes encoding mitochondrial inner membrane organizing determinants, including TAZ, DNAJC19, SERAC1 and QIL1/MIC13.
  7. Radha Rama Devi A, Lingappa L. Novel mutations in SERAC1 gene in two Indian patients presenting with dystonia and intellectual disability. Eur J Med Genet. 2018;61:100-103 pubmed publisher
    ..manifesting as dystonia and 3-methylglutaconic aciduria and a Leigh like lesions in the brain MRI associated with SERAC1 gene mutation, a phenotype characteristic of MEGDEL syndrome. A four base pair duplication in exon 15 i.e...
  8. Unal O, Ozgul R, Yücel D, Yalnizoglu D, Tokatli A, Sivri H, et al. Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation. Turk J Pediatr. 2015;57:388-393 pubmed
    ..It is an autosomal recessive disorder due to mutation in the serine active site-containing protein 1 (SERAC1)...
  9. Roeben B, Schule R, Ruf S, Bender B, Alhaddad B, Benkert T, et al. SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family. J Med Genet. 2018;55:39-47 pubmed publisher
    To demonstrate that mutations in the phosphatidylglycerol remodelling enzyme SERAC1 can cause juvenile-onset complicated hereditary spastic paraplegia (cHSP) clusters, thus adding SERAC1 to the increasing number of complex lipid ..
  10. Palidwor G, Shcherbinin S, Huska M, Rasko T, Stelzl U, Arumughan A, et al. Detection of alpha-rod protein repeats using a neural network and application to huntingtin. PLoS Comput Biol. 2009;5:e1000304 pubmed publisher
    ..proteins, identifying alpha-rod repeats for the first time in six protein families, including proteins STAG1-3, SERAC1, and PSMD1-2 & 5...
  11. Piura E, Piura B. Autoantibodies to tailor-made panels of tumor-associated antigens in breast carcinoma. J Oncol. 2011;2011:982425 pubmed publisher
    ..and MUC1, (4) MUC1, HER2, p53, and IGFBP2, (5) p53, HER2, IGFBP-2, and TOPO2?, (6) survivin and livin, (7) ASB-9, SERAC1, and RELT, and (8) p16, p53, and c-myc...
  12. Wortmann S, Rodenburg R, Huizing M, Loupatty F, de Koning T, Kluijtmans L, et al. Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation. Mol Genet Metab. 2006;88:47-52 pubmed
    ..Our patients were further biochemically characterized by a mitochondrial dysfunction and persistent urinary excretion of 3-methylglutaconic acid. ..
  13. Maas R, Iwanicka Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al Owain M, et al. Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases. Ann Neurol. 2017;82:1004-1015 pubmed publisher
    ..hepatopathy, encephalopathy, Leigh-like syndrome (MEGDHEL) syndrome is caused by biallelic variants in SERAC1. This multicenter study addressed the course of disease for each organ system...