Aliases for SLC25A38 Gene
External Ids for SLC25A38 Gene
Previous GeneCards Identifiers for SLC25A38 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]
GeneCards Summary for SLC25A38 Gene
SLC25A38 (Solute Carrier Family 25 Member 38) is a Protein Coding gene. Diseases associated with SLC25A38 include Anemia, Sideroblastic, 2, Pyridoxine-Refractory and Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anemia.
UniProtKB/Swiss-Prot for SLC25A38 Gene
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.