rs80338727
This is a variant in the SLC25A13 gene that changes a glutamate to an lysine.
▶ClinVar annotation
Citrin deficiency; Citrullinemia, type II, adult-onset (CDAA); Neonatal intrahepatic cholestasis due to citrin deficiency (CDNI); not specified
View on ClinVar →▶Research that mentions this SNP (2)
▶Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutationsAssociationNaoki Yamaguchi et al.(2002)· Human Mutation
A Japanese population genetic screening study identifying 22 pathogenic SLC25A13 gene mutations associated with citrin deficiency, including two novel mutations. The study established DNA diagnosis methods for nine mutations and characterized their frequency in early and late-onset citrin deficiency patients and the general Japanese population, finding high carrier rates in Asian populations.
▶Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemiaCase reportN=222Tomotsugu Yasuda et al.(2000)· Human Genetics
A nationwide retrospective study of 222 Japanese patients with citrin deficiency, an autosomal recessive disorder caused by SLC25A13 mutations. Six prevalent SLC25A13 variants (c.1177+1G>A, c.852_855delTATG, c.1311+1G>A, c.674C>A, c.1750_1751dup, c.1638_1660dup) account for 83% of alleles. The cohort had excellent survival (218/222 alive) with age-dependent clinical manifestations: neonatal intrahepatic cholestasis (NICCD), failure to thrive/dyslipidemia (FTTDCD), and adult-onset citrullinemia (CTLN2). Early intervention with medium-chain triglycerides and carbohydrate-restricted diet improved outcomes.
About SLC25A13
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]
View all SLC25A13 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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