citrin 抗体 (8Z): sc-100937

Citrin, also known as SLC25A13 (Solute carrier family 25 member 13), ARALAR2 or CTLN2, is a 675 amino acid multi-pass membrane protein that localizes to the inner membrane of the mitochondrion. Expressed in liver, pancreas, kidney, brain, heart and placenta, citrin functions as a calcium-dependent glutamate and aspartate carrier that is thought to play a role in the urea cycle. Citrin, a member of the mitochondrial carrier family, contains three Solcar repeats and four EF-hand domains through which it binds calcium. Defects in the gene encoding citrin are the cause of citrullinemia type 2 (CTLN2) and neonatal intrahepatic cholestasis due to citrin deficiency (NICCD). CTLN2 is an autosomal recessive disease that results from errors in the urea cycle and is characterized by neuropsychiatric symptoms such as loss of memory, seizures and coma. NICCD, a non-lethal disorder, occurs during infancy and is characterized by low birth weight, reduced bile flow, growth retardation and hepatic fibrosis.