Mitochondrial glycine transporter (SLC25A38)

Mitochondrial glycine transporter (SLC25A38) is a member of the solute carrier (SLC25) family located in the inner mitochondrial membrane. Its primary physiological function is to import glycine into mitochondria, an essential step for heme biosynthesis, since glycine is a substrate for δ-aminolevulinic acid (ALA) synthesis—the first and rate-limiting step in the heme pathway. Mutations in SLC25A38 are the leading genetic cause of autosomal recessive congenital sideroblastic anemia, a severe, transfusion-dependent disease associated with iron overload. SLC25A38 is also emerging as a prognostic biomarker in certain cancers, with altered expression correlating with disease progression in uveal melanoma and possibly other tumors. There are currently no direct small-molecule or biologic drugs targeting SLC25A38; the main therapeutic approaches aim to bypass the defect by supplementing glycine, ALA, or folate to restore heme synthesis.

Other names

SLC25A38Mitochondrial glycine transporter GlyCAppoptosinFLJ20551SIDBA2GlyCmitochondrial glycine transportersolute carrier family 25 member 38

Glycine or ALA supplementation aims to overcome the block in heme synthesis by providing substrates downstream of the defective transporter.