Description: solute carrier family 25, member 13 (citrin) RefSeq Summary (NM_014251): 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]. Transcript (Including UTRs) Position: hg18 chr7:95,587,468-95,789,395 Size: 201,928 Total Exon Count: 18 Strand: - Coding Region Position: hg18 chr7:95,588,439-95,789,204 Size: 200,766 Coding Exon Count: 18
ID:CMC2_HUMAN DESCRIPTION: RecName: Full=Calcium-binding mitochondrial carrier protein Aralar2; AltName: Full=Citrin; AltName: Full=Mitochondrial aspartate glutamate carrier 2; AltName: Full=Solute carrier family 25 member 13; FUNCTION: Catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane. May have a function in the urea cycle. SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: High levels in liver and low levels in kidney, pancreas, placenta, heart and brain. 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. MISCELLANEOUS: Binds calcium. SIMILARITY: Belongs to the mitochondrial carrier family. SIMILARITY: Contains 4 EF-hand domains. SIMILARITY: Contains 3 Solcar repeats. SEQUENCE CAUTION: Sequence=AAB67049.1; Type=Erroneous gene model prediction; Sequence=AAB70112.1; Type=Erroneous gene model prediction; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC25A13";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00153 - Mitochondrial carrier protein
ModBase Predicted Comparative 3D Structure on Q9UJS0
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
