MGP Database

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MGP004150

UniProt Annotations

Entry Information
Gene Namesolute carrier family 25 (aspartate/glutamate carrier), member 13
Protein EntryCMC2_HUMAN
UniProt IDQ9UJS0
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UJS0-1; Sequence=Displayed; Name=2; IsoId=Q9UJS0-2; Sequence=VSP_043747;
DiseaseCholestasis, neonatal intrahepatic, caused by citrin deficiency (NICCD) [MIM:605814]: 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. {ECO:0000269|PubMed:11793471}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseCitrullinemia 2 (CTLN2) [MIM:603471]: 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. {ECO:0000269|PubMed:10369257, ECO:0000269|PubMed:10610724}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCatalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane. May have a function in the urea cycle. {ECO:0000269|PubMed:11566871}.
MiscellaneousBinds calcium.
Sequence CautionSequence=AAB67049.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAB70112.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
SimilarityBelongs to the mitochondrial carrier (TC 2.A.29) family. {ECO:0000305}.
SimilarityContains 3 Solcar repeats. {ECO:0000255|PROSITE- ProRule:PRU00282}.
SimilarityContains 4 EF-hand domains. {ECO:0000255|PROSITE- ProRule:PRU00448}.
Subcellular LocationMitochondrion inner membrane {ECO:0000269|PubMed:10642534}; Multi-pass membrane protein {ECO:0000269|PubMed:10642534}.
Tissue SpecificityHigh levels in liver and low levels in kidney, pancreas, placenta, heart and brain. {ECO:0000269|PubMed:10369257, ECO:0000269|PubMed:10642534}.
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