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Solute carrier family 25, member 38

This gene is a member of the mitochondrial carrier family. The encoded protein is required during erythropoiesis and is important for the biosynthesis of heme. Mutations in this gene are the cause of autosomal congenital sideroblastic anemia.[provided by RefSeq, Mar 2010] (from NCBI)
Top mentioned proteins: 5-aminolevulinate synthase, CsA, caspase-3, PrP, HAD
Papers on SLC25A38
Complex preimplantation genetic diagnosis for beta-thalassaemia, sideroblastic anaemia, and human leukocyte antigen (HLA)-typing.
Traeger-Synodinos et al., Athens, Greece. In Syst Biol Reprod Med, Feb 2016
linked to the HBB gene, the SLC25A38 gene mutation (c.726C > T), two STRs in chr3p22.1 linked to the SLC25A38 gene, plus eleven informative STRs for HLA-haplotyping (chr6p22.1-21.3).
Diagnosis and treatment of sideroblastic anemias: from defective heme synthesis to abnormal RNA splicing.
Malcovati et al., Pavia, Italy. In Hematology Am Soc Hematol Educ Program, Jan 2016
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 anemia, which soon becomes transfusion dependent.
Curcumin inhibits appoptosin-induced apoptosis via upregulating heme oxygenase-1 expression in SH-SY5Y cells.
Chen et al., Fuzhou, China. In Acta Pharmacol Sin, May 2015
AIM: 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.
Deregulation of genes related to iron and mitochondrial metabolism in refractory anemia with ring sideroblasts.
Hernández-Rivas et al., Salamanca, Spain. In Plos One, 2014
Thus mitochondrial transporters SLC25 (SLC25A37 and SLC25A38) and ALAD genes were over-expressed in RARS.
Mutation analysis of Chinese sporadic congenital sideroblastic anemia by targeted capture sequencing.
Guo et al., Tianjin, China. In J Hematol Oncol, 2014
SLC25A38 mutations were detected in three patients, including three novel mutations.
[Expression of SLC25A38 in leukemic cells from children with acute lymphoblastic leukemia].
Xu et al., Xiamen, China. In Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2014
This study was aimed to investigate the SLC25A38 expression in pediatric patients with acute lymphoblastic leukemia (ALL) and its clinical significance.
Overexpression of SLC25A38 protein on acute lymphoblastic leukemia cells.
Xu et al., Xiamen, China. In Oncol Lett, 2014
SLC25A38 is a recently identified protein that belongs to the mitochondrial solute carrier family, SLC25.
Pathophysiology and genetic mutations in congenital sideroblastic anemia.
Harigae et al., Sendai, Japan. In Pediatr Int, 2013
Other known etiologies include mutations in the erythroid specific mitochondrial transporter (SLC25A38), adenosine triphosphate (ATP) binding cassette B7 (ABCB7), glutaredoxin 5 (GLRX5), thiamine transporter SLC19A2, the RNA-modifying enzyme pseudouridine synthase (PUS1), and mitochondrial tyrosyl-tRNA synthase (YARS2), as well as mitochondrial DNA deletions.
Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia.
May et al., Paris, France. In Haematologica, 2011
Mutations in the SLC25A38 gene cause severe, non-syndromic, microcytic/hypochromic sideroblastic anemia in many populations.
New mutation in erythroid-specific delta-aminolevulinate synthase as the cause of X-linked sideroblastic anemia responsive to pyridoxine.
Divoky et al., Olomouc, Czech Republic. In Acta Haematol, 2010
In addition, autosomal recessive mutations in the erythroid-specific mitochondrial transporter SLC25A38 and glutaredoxin 5 (GLRX5) have recently been identified in SA patients with isolated erythroid phenotype.
Hereditary sideroblastic anemia: pathophysiology and gene mutations.
Furuyama et al., Sendai, Japan. In Int J Hematol, 2010
Sideroblastic anemia due to SLC25A38 gene mutations, which is a mitochondrial transporter, is the next most common inherited sideroblastic anemia.
Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations.
Neufeld et al., Boston, United States. In Pediatr Blood Cancer, 2010
Twelve CSA probands had biallelic mutations in SLC25A38
Hereditary sideroblastic anemias: pathophysiology, diagnosis, and treatment.
Camaschella, Milano, Italy. In Semin Hematol, 2009
As recently occurred with the discovery of the SLC25A38-related sideroblastic anemia, the identification of the genes responsible for as yet uncharacterized forms will provide further insights into mitochondrial iron metabolism of erythroid cells and the pathophysiology of sideroblastic anemia.
Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia.
Samuels et al., Halifax, Canada. In Nat Genet, 2009
Here, by positional cloning, we define a previously unknown form of autosomal recessive nonsyndromic 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.
Fourteen novel human members of mitochondrial solute carrier family 25 (SLC25) widely expressed in the central nervous system.
Fredriksson et al., Uppsala, Sweden. In Genomics, 2006
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.
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