SLC25A38

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.

Full Name

Solute Carrier Family 25 Member 38

Function

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.
Plays a role as pro-apoptotic protein that induces caspase-dependent apoptosis.

Biological Process

Biological Process erythrocyte differentiationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process glycine import into mitochondrionManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process heme biosynthetic processManual Assertion Based On ExperimentTAS:UniProtKB

Cellular Location

Mitochondrion inner membrane

Involvement in disease

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.