SLC25A38 gene

solute carrier family 25 member 38

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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 (anemia, sideroblastic, 2, pyridoxine-refractory). A related pseudogene is found on chromosome 1. [provided by RefSeq, Aug 2017]

From UniProt:

Mitochondrial glycine transporter that imports glycine into the mitochondrial matrix. Plays an important role in providing glycine for the first enzymatic step in heme biosynthesis, the condensation of glycine with succinyl-CoA to produce 5-aminolevulinate (ALA) in the mitochondrial matrix. Required during erythropoiesis.

From NCBI Gene:

  • Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive

From UniProt:

Anemia, sideroblastic, 2, pyridoxine-refractory (SIDBA2): 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. [MIM:205950]

Cytogenetic Location: 3p22.1, which is the short (p) arm of chromosome 3 at position 22.1

Molecular Location: base pairs 39,383,324 to 39,397,351 on chromosome 3 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 3p22.1, which is the short (p) arm of chromosome 3 at position 22.1
  • SIDBA2