功能： disease:Defects in SLC25A13 are the cause of citrullinemia type 2 (CTLN2) [MIM:603471]. 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.,disease:Defects in SLC25A13 are the cause of neonatal intrahepatic cholestasis due to citrin deficiency (NICCD) [MIM:605814]. 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.,function:Calcium-dependent mitochondrial aspartate and glutamate carrier. May have a function in the urea cycle.,miscellaneous:Binds calcium.,similarity:Belongs to the mitochondrial carrier family.,similarity:Contains 3 Solcar repeats.,similarity:Contains 4 EF-hand domains.,tissue specificity:High levels in liver and low levels in kidney, pancreas, placenta, heart and brain.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Mitochondrion inner membrane ; Multi-pass membrane protein .
组织表达： High levels in liver and low levels in kidney, pancreas, placenta, heart and brain.
科研货号： PLA006383
CMC2 Polyclonal Antibody
Catalog NoPLA006383
Product information
基因名称： SLC25A13 ARALAR2
蛋白名称： Calcium-binding mitochondrial carrier protein Aralar2 (Citrin) (Mitochondrial aspartate glutamate carrier 2) (Solute carrier family 25 member 13)
功能： disease:Defects in SLC25A13 are the cause of citrullinemia type 2 (CTLN2) [MIM:603471]. 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.,disease:Defects in SLC25A13 are the cause of neonatal intrahepatic cholestasis due to citrin deficiency (NICCD) [MIM:605814]. 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.,function:Calcium-dependent mitochondrial aspartate and glutamate carrier. May have a function in the urea cycle.,miscellaneous:Binds calcium.,similarity:Belongs to the mitochondrial carrier family.,similarity:Contains 3 Solcar repeats.,similarity:Contains 4 EF-hand domains.,tissue specificity:High levels in liver and low levels in kidney, pancreas, placenta, heart and brain.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Mitochondrion inner membrane ; Multi-pass membrane protein .
组织表达： High levels in liver and low levels in kidney, pancreas, placenta, heart and brain.
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