SLC25A38

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.[provided by RefSeq, Mar 2010]

From UniProt:

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.

From NCBI Gene:

  • Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive

From UniProt:

Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive (PRARSA): 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 39,397,328 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

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