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Protein Page:
SLC25A13 (human)

Overview
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. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral; Membrane protein, multi-pass; Mitochondrial; Transporter; Transporter, SLC family
Chromosomal Location of Human Ortholog: 7q21.3
Cellular Component: mitochondrial inner membrane; mitochondrion
Molecular Function: acidic amino acid transmembrane transporter activity; calcium ion binding; L-aspartate transmembrane transporter activity; L-glutamate transmembrane transporter activity
Biological Process: aspartate transport; ATP biosynthetic process; cellular respiration; gluconeogenesis; L-glutamate transport; malate-aspartate shuttle; response to calcium ion
Disease: Citrullinemia, Type Ii, Adult-onset; Citrullinemia, Type Ii, Neonatal-onset
Reference #:  Q9UJS0 (UniProtKB)
Alt. Names/Synonyms: ARALAR2; Calcium-binding mitochondrial carrier protein Aralar2; Citrin; CMC2; CTLN2; Mitochondrial aspartate glutamate carrier 2; SLC25A13; Solute carrier family 25 member 13; solute carrier family 25, member 13; solute carrier family 25, member 13 (citrin)
Gene Symbols: SLC25A13
Molecular weight: 74,176 Da
Basal Isoelectric point: 8.79  Predict pI for various phosphorylation states
Select Structure to View Below

SLC25A13

Protein Structure Not Found.
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