SLC25A38

Summary

Gene Symbol: SLC25A38
Description: solute carrier family 25 member 38
Alias: SIDBA2, mitochondrial glycine transporter, appoptosin, mitochondrial glycine transporter GlyC
Species: human
Products:     SLC25A38

Top Publications

  1. Peoc h K, Nicolas G, Schmitt C, Mirmiran A, Daher R, Lefebvre T, et al. Regulation and tissue-specific expression of δ-aminolevulinic acid synthases in non-syndromic sideroblastic anemias and porphyrias. Mol Genet Metab. 2019;: pubmed publisher
    ..anemia (XLSA) or from defect in the availability of one of its two mitochondrial substrates: glycine in SLC25A38 mutations and succinyl CoA in GLRX5 mutations...
  2. Daher R, Mansouri A, Martelli A, Bayart S, Manceau H, Callebaut I, et al. GLRX5 mutations impair heme biosynthetic enzymes ALA synthase 2 and ferrochelatase in Human congenital sideroblastic anemia. Mol Genet Metab. 2019;: pubmed publisher
    ..caused by defective genes encoding for either ALAS2, the first enzyme of heme biosynthesis pathway or SLC25A38, the mitochondrial importer of glycine, an ALAS2 substrate...
  3. Chen H, Lu Y, Wen H, Lu Q, Zhang Y, Xu H. [Expression of SLC25A38 in leukemic cells from children with acute lymphoblastic leukemia]. Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2014;22:1230-4 pubmed publisher
    This study was aimed to investigate the SLC25A38 expression in pediatric patients with acute lymphoblastic leukemia (ALL) and its clinical significance...
  4. Zheng K, Zhang J, Zhang C, Zhang Y, Chen X. Curcumin inhibits appoptosin-induced apoptosis via upregulating heme oxygenase-1 expression in SH-SY5Y cells. Acta Pharmacol Sin. 2015;36:544-52 pubmed publisher
    b>Appoptosin (SLC25A38) is a pro-apoptotic protein, which is upregulated in Alzheimer's disease (AD) brains and plays an important role in promoting the pathological progress of AD...
  5. An W, Zhang J, Chang L, Zhang Y, Wan Y, Ren Y, et al. Mutation analysis of Chinese sporadic congenital sideroblastic anemia by targeted capture sequencing. J Hematol Oncol. 2015;8:55 pubmed publisher
    ..The results were confirmed by Sanger sequencing. The ALAS2 mutation was detected in one patient. SLC25A38 mutations were detected in three patients, including three novel mutations...
  6. Cazzola M, Malcovati L. Diagnosis and treatment of sideroblastic anemias: from defective heme synthesis to abnormal RNA splicing. Hematology Am Soc Hematol Educ Program. 2015;2015:19-25 pubmed publisher
    ..Autosomal recessive sideroblastic anemia attributable to mutations in SLC25A38, a member of the mitochondrial carrier family, is a severe disease: patients present in infancy with microcytic ..
  7. Mehri M, Zarin M, Ardalani F, Najmabadi H, Azarkeivan A, Neishabury M. Novel mutations in mitochondrial carrier family gene SLC25A38, causing congenital sideroblastic anemia in Iranian families, identified by whole exome sequencing. Blood Cells Mol Dis. 2018;71:39-44 pubmed publisher
    ..Two novel frame shift mutations and one previously reported missense mutation in SLC25A38 gene was identified in these families...
  8. Dufay J, Fernández Murray J, McMaster C. SLC25 Family Member Genetic Interactions Identify a Role for HEM25 in Yeast Electron Transport Chain Stability. G3 (Bethesda). 2017;7:1861-1873 pubmed publisher
    The SLC25 family member SLC25A38 (Hem25 in yeast) was recently identified as a mitochondrial glycine transporter that provides substrate to initiate heme/hemoglobin synthesis...
  9. Zhao Y, Tseng I, Heyser C, Rockenstein E, Mante M, Adame A, et al. Appoptosin-Mediated Caspase Cleavage of Tau Contributes to Progressive Supranuclear Palsy Pathogenesis. Neuron. 2015;87:963-75 pubmed publisher
    ..Here, we identified a much higher T-allele occurrence and increased levels of the pro-apoptotic protein appoptosin in PSP patients. Elevations in appoptosin correlate with activated caspase-3 and caspase-cleaved tau levels...

More Information

Publications22

  1. Fernández Murray J, Prykhozhij S, Dufay J, Steele S, Gaston D, Nasrallah G, et al. Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia. PLoS Genet. 2016;12:e1005783 pubmed publisher
    ..A common subtype of congenital sideroblastic anemia is due to autosomal recessive mutations in the SLC25A38 gene...
  2. Haitina T, Lindblom J, Renström T, Fredriksson R. Fourteen novel human members of mitochondrial solute carrier family 25 (SLC25) widely expressed in the central nervous system. Genomics. 2006;88:779-790 pubmed publisher
    ..These were provided with following gene symbols by the HGNC: SLC25A32, SLC25A33, SLC25A34, SLC25A35, SLC25A37, SLC25A38, SLC25A39, SLC25A40, SLC25A41, SLC25A42, SLC25A43, SLC25A44, SLC25A45, and SLC25A46...
  3. Guernsey D, Jiang H, Campagna D, Evans S, Ferguson M, Kellogg M, et al. Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia. Nat Genet. 2009;41:651-3 pubmed publisher
    ..congenital sideroblastic anemia, associated with mutations in the gene encoding the erythroid specific mitochondrial carrier family protein SLC25A38, and demonstrate that SLC25A38 is important for the biosynthesis of heme in eukaryotes.
  4. Lunetti P, Damiano F, De Benedetto G, Siculella L, Pennetta A, Muto L, et al. Characterization of Human and Yeast Mitochondrial Glycine Carriers with Implications for Heme Biosynthesis and Anemia. J Biol Chem. 2016;291:19746-59 pubmed publisher
    ..Herein we describe the biochemical and molecular characterization of yeast Hem25p and human SLC25A38, providing evidence that they are mitochondrial carriers for glycine...
  5. Kannengiesser C, Sanchez M, Sweeney M, Hetet G, Kerr B, Moran E, et al. Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia. Haematologica. 2011;96:808-13 pubmed publisher
    ..Recently, variations in the gene for the mitochondrial carrier SLC25A38 were reported to cause a non-syndromic, severe type of autosomal-recessive sideroblastic anemia...
  6. Camaschella C. Hereditary sideroblastic anemias: pathophysiology, diagnosis, and treatment. Semin Hematol. 2009;46:371-7 pubmed publisher
    ..As recently occurred with the discovery of the SLC25A38-related sideroblastic anemia, the identification of the genes responsible for as yet uncharacterized forms will ..
  7. Liu G, Guo S, Kang H, Zhang F, Hu Y, Wang L, et al. Mutation spectrum in Chinese patients affected by congenital sideroblastic anemia and a search for a genotype-phenotype relationship. Haematologica. 2013;98:e158-60 pubmed publisher
  8. Zhang C, Shi Z, Zhang L, Zhou Z, Zheng X, Liu G, et al. Appoptosin interacts with mitochondrial outer-membrane fusion proteins and regulates mitochondrial morphology. J Cell Sci. 2016;129:994-1002 pubmed publisher
    ..Impaired mitochondria dynamics cause various diseases, including Alzheimer's disease. Appoptosin (encoded by SLC25A38) is a mitochondrial carrier protein that is located in the mitochondrial inner membrane...
  9. Zhang H, Zhang Y, Chen Y, Huang X, Zhou F, Wang W, et al. Appoptosin is a novel pro-apoptotic protein and mediates cell death in neurodegeneration. J Neurosci. 2012;32:15565-76 pubmed publisher
    ..Here we identify a ?-amyloid precursor protein (APP)-interacting protein, designated as appoptosin, whose levels are upregulated in brain samples from Alzheimer's disease and infarct patients, and in rodent ..
  10. Samiullah S, Roberts J, Wu S. Downregulation of ALAS1 by nicarbazin treatment underlies the reduced synthesis of protoporphyrin IX in shell gland of laying hens. Sci Rep. 2017;7:6253 pubmed publisher
    ..The gene SLC25A38, responsible for transporting glycine from cytoplasm to mitochondria, and the gene ALAS1, encoding rate-limiting ..
  11. Le Rouzic M, Fouquet C, Leblanc T, Touati M, Fouyssac F, Vermylen C, et al. Non syndromic childhood onset congenital sideroblastic anemia: A report of 13 patients identified with an ALAS2 or SLC25A38 mutation. Blood Cells Mol Dis. 2017;66:11-18 pubmed publisher
    ..germline mutations responsible for non syndromic congenital sideroblastic anemia are identified in ALAS2 and SLC25A38 genes...
  12. Bergmann A, Campagna D, McLoughlin E, Agarwal S, Fleming M, Bottomley S, et al. Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. Pediatr Blood Cancer. 2010;54:273-8 pubmed publisher
    ..A novel autosomal recessive CSA, caused by mutations in the erythroid specific mitochondrial transporter SLC25A38, was recently defined...
  13. Wong W, Wong H, Cheng C, Chang K, Chan N, Ng M, et al. Congenital sideroblastic anaemia with a novel frameshift mutation in SLC25A38. J Clin Pathol. 2015;68:249-51 pubmed publisher