SLC25A13 ist ein Gen, das durch das Symbol SLC25A13 kodiert wird. Es ist auch bekannt als: Calcium-binding mitochondrial carrier protein Aralar2; Citrin; Mitochondrial aspartate glutamate carrier 2; Solute carrier family 25 member 13; ARALAR2. SLC25A13 hat eine Masse von 74.18kDa, eine Aminosäurelänge von 675, und ist an folgenden Krankheiten beteiligt: Citrullinemia 2; Cholestasis, neonatal intrahepatic, caused by citrin deficiency.
Wir bieten 5 antikörper gegen SLC25A13, aufgewachsen in Kaninchen, welche geeignet sind für WB and IHC mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
Mitochondrial and calcium-binding carrier that catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane (PubMed:11566871, PubMed:25410934). May have a function in the urea cycle (PubMed:11566871).
Entrez Zusammenfassung
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.
Gewebespezifität
High levels in liver and low levels in kidney, pancreas, placenta, heart and brain.
Rolle bei Krankheiten
Citrullinemia 2: A form of citrullinemia, an autosomal recessive disease characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation. Citrullinemia type 2 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.
Cholestasis, neonatal intrahepatic, caused by citrin deficiency: A form of citrullinemia type 2 with neonatal onset, characterized by suppression of the bile flow, hepatic fibrosis, low birth weight, growth retardation, hypoproteinemia, variable liver dysfunction. Neonatal intrahepatic cholestasis due to citrin deficiency 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.
Sequenzähnlichkeiten
Belongs to the mitochondrial carrier (TC 2.A.29) family.
Zellort
Mitochondrion inner membrane.
