Genomes and Genes
Gene Symbol: SLC25A38
Description: solute carrier family 25 member 38
Alias: SIDBA2, mitochondrial glycine transporter, appoptosin, mitochondrial glycine transporter GlyC
- FernÃ¡ndez 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...
- 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...
- 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.
- 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...
- 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...
- 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 ..
- 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...
- 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 ..
- 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 ..
- 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...
- 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...