SLCtables

SLC25A38

Protein name: N/D Aliases: N/D Substrates: glycine ? Transport type: N/D Tissue and cellular expression: erythroid cells Subcellular expression: N/D Disease: sideroblastic anemia Locus: 3p22.1 Sequence ID: NP_060345.2, NM_017875.2 Gene ID: 54977 Splice variants: N/D

S2538_HUMAN (UniProt)

Gene names: SLC25A38
Protein names and data: S2538_HUMAN, Full=Solute carrier family 25 member 38; Length: 304 a.a., Mass: 33566 Da,
fasta formatted sequence
Function: Mitochondrial carrier required during erythropoiesis. Probably involved in the biosynthesis of heme, possibly by facilitating 5-aminolevulinate (ALA) production. May act by importing glycine into mitochondria or by exchanging glycine for ALA across the mitochondrial inner membrane
Disease: (OMIM: 205950 610819) Defects in SLC25A38 are a cause of anemia sideroblastic pyridoxine-refractory autosomal recessive (PRARSA) [MIM:205950]. A form of sideroblastic anemia not responsive to pyridoxine. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus
Cellular location: Mitochondrion inner membrane; Multi-pass membrane protein (By similarity)
Tissue specificity: Preferentially expressed in erythroid cells

Database cross-references

UniProt: Q96DW6
NextBio: 58234
OMIM: 205950 610819
Ensembl: ENST00000273158
GeneCard: GC03P039384
PharmGenUCSF: SLC25A38
Guide to Pharmacology: SLC25A38 (1089)
Mitochondrial amino acid transporter subfamily (1089)
HGNC: HGNC:26054

Genetic variants

See also Ensembl:ENST00000273158

66 - 66 R -> G (in dbSNP:rs34127778). VAR_032862 34127778
130 - 130 G -> E (in PRARSA). VAR_058093
134 - 134 R -> H (in PRARSA). VAR_058094
187 - 187 R -> P (in PRARSA). VAR_058095
209 - 209 D -> H (in PRARSA). VAR_058096