MGC69168 antibody, ctln2 antibody, citrin antibody, aralar2 antibody, AI785475 antibody, Ctrn antibody, ARALAR2 antibody, CITRIN antibody, CTLN2 antibody, RGD1565889 antibody, solute carrier family 25 member 13 L homeolog antibody, solute carrier family 25 member 13 antibody, solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 13 antibody, slc25a13.L antibody, SLC25A13 antibody, slc25a13 antibody, Slc25a13 antibody
背景
This gene is a member of the mitochondrial carrier family. The encoded protein contains four EF-hand Ca(2+) binding motifs in the N-terminal domain, and localizes to mitochondria. The protein catalyzes the exchange of aspartate for glutamate and a proton across the inner mitochondrial membrane, and is stimulated by calcium on the external side of the inner mitochondrial membrane. Mutations in this gene result in citrullinemia, type II. Multiple transcript variants encoding different isoforms have been found for this gene.