MGC69168 antikoerper, ctln2 antikoerper, citrin antikoerper, aralar2 antikoerper, AI785475 antikoerper, Ctrn antikoerper, ARALAR2 antikoerper, CITRIN antikoerper, CTLN2 antikoerper, RGD1565889 antikoerper, solute carrier family 25 member 13 L homeolog antikoerper, solute carrier family 25 member 13 antikoerper, solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 13 antikoerper, slc25a13.L antikoerper, SLC25A13 antikoerper, slc25a13 antikoerper, Slc25a13 antikoerper
Hintergrund
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.