SLC25A13 Antibody – Mouse Monoclonal

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. [provided by RefSeq, May 2009]

SLC25A13: Catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane. May have a function in the urea cycle. Defects in SLC25A13 are the cause of citrullinemia type 2 (CTLN2). Citrullinemia belongs to the urea cycle disorders. It is an autosomal recessive disease characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation. CTLN2 is characterized by neuropsychiatric symptoms including abnormal behaviors, loss of memory, seizures and coma. Death can result from brain edema. Onset is sudden and usually between the ages of 20 and 50 years. Defects in SLC25A13 are the cause of neonatal intrahepatic cholestasis due to citrin deficiency (NICCD). NICCD is a form of citrullinemia type 2 with neonatal onset. NICCD is characterized by suppression of the bile flow, hepatic fibrosis, low birth weight, growth retardation, hypoproteinemia, variable liver dysfunction. NICCD is generally not severe and symptoms disappear by one year of age with an appropriate diet. Years or even decades later, however, some individuals develop the characteristic features of citrullinemia type 2 with neuropsychiatric symptoms. Belongs to the mitochondrial carrier family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Mitochondrial; Membrane protein, multi-pass; Membrane protein, integral; Transporter, SLC family; Transporter

Chromosomal Location of Human Ortholog: 7q21.3

Cellular Component: mitochondrion; integral to plasma membrane; mitochondrial inner membrane

Molecular Function: L-aspartate transmembrane transporter activity; transporter activity; calcium ion binding; L-glutamate transmembrane transporter activity

Biological Process: L-glutamate transport; transport; ATP biosynthetic process; carbohydrate metabolic process; cellular respiration; glucose metabolic process; pathogenesis; aspartate transport; malate-aspartate shuttle; response to calcium ion; gluconeogenesis

Disease: Citrullinemia, Type Ii, Adult-onset; Citrullinemia, Type Ii, Neonatal-onset