SLC25A38 Recombinant Rabbit Monoclonal Antibody [PSH02-79]

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. Mitochondrial glycine transporter is a protein that in humans is encoded by the SLC25A38 gene. SLC25A38 is involved in mitochondrial handling of glycine and is needed for the first step in heme synthesis. Mutations in this gene can lead to an autosomal recessive form of sideroblastic anemia.