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