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SLC25A13

From SNPedia
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# SNPs24
 Max MagnitudeChromosome positionSummary
i5007231
i5007232
i6056228
rs1060499612096,208,837
rs1219085325.796,121,733
rs1391491605.796,131,829
rs569808959096,189,372
rs7461551905.796,189,654
rs7631917895.796,184,990
rs803387155.796,321,942
rs803387165.796,193,102
rs803387175.796,193,032
rs803387185.796,193,036
rs803387195.796,191,189
rs803387205.796,189,373
rs803387215.796,184,376
rs803387225.796,184,276
rs803387235.796,170,044
rs803387245.796,121,997
rs803387255.796,121,928
rs803387265.796,121,696
rs803387275.796,121,695
rs803387295.796,121,683
rs8792555045.796,193,157

The SLC25A13 gene, located on chromosome 7, encodes citrin, a protein involved in shuttling amino acids to and from the mitochondria primarily in the liver, kidneys and heart. More than 20 mutations in the SLC25A13 gene have been identified in people with adult-onset type II citrullinemia (CTLN2). This condition causes neurological problems, such as confusion, restlessness, irritability, and seizures, usually beginning in adulthood. Almost all of the identified mutations lead to the production of an unstable citrin protein that is quickly broken down or an abnormally short, nonfunctional version of the protein.GHR

Recessively inherited mutations in the SLC25A13 gene also have been found in infants with a liver disorder called neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). This liver disorder is also known as neonatal-onset type II citrullinemia. NICCD blocks the flow of bile (a digestive fluid produced by the liver) and prevents the body from processing certain nutrients properly. Ammonia does not build up in the bloodstream of infants with NICCD, and the signs and symptoms typically go away within a year. In rare cases, these individuals develop signs and symptoms of another condition called failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD) after recovering from NICCD. Many individuals with NICCD or FTTDCD have the same mutations in the SLC25A13 gene as people with adult-onset type II citrullinemia. Years or even decades later, some people who had NICCD or FTTDCD develop the features of adult-onset type II citrullinemia.GHR

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