Solute Carrier Family 25, Member 38 (SLC25A38)

SLC25A38 belongs to the SLC25 family of mitochondrial carrier proteins.By searching databases for SLC25 family members, Haitina et al. (2006) identified SLC25A38. The deduced protein contains 303 amino acids.Guernsey et al. (2009) found high expression of the SLC25A38 gene in transferrin receptor (TFRC)-positive erythroid cells.Haitina et al. (2006) determined that the SLC25A38 gene contains 7 exons.By genomic sequence analysis, Haitina et al. (2006) mapped the SLC25A38 gene to chromosome 3. They mapped the mouse gene to chromosome 9.In 18 patients with autosomal recessive pyridoxine-refractory sideroblastic anemia, Guernsey et al. (2009) identified 11 different homozygous or compound heterozygous mutations in the SLC25A38 gene.