Recombinant Human Solute carrier family 25 member 38 (SLC25A38), Truncated

Uniprot Id

Q96DW6

Target Species

Human

Target Name

SLC25A38

Target Full Name

Mitochondrial glycine transporter

Target 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.

Target Involvement

Anemia, sideroblastic, 2, pyridoxine-refractory (SIDBA2)

Target Subcellular Location

Mitochondrion inner membrane; Multi-pass membrane protein.

Target Protein Families

Mitochondrial carrier (TC 2.A.29) family, SLC25A38 subfamily

Target Tissue Specificity

Preferentially expressed in erythroid cells.

Target Synonyms

SLC25A38; Mitochondrial glycine transporter; Mitochondrial glycine transporter GlyC; Solute carrier family 25 member 38

Target Background

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.