rs2631372
This is a upstream gene variant variant in the SLC22A5 gene.
▶Research that mentions this SNP (1)
▶Genetic variants in the JAK1 gene confer higher risk of Behcet’s disease with ocular involvement in Han ChineseAssociationN=2,611Shengping Hou et al.(2013)· Human Genetics
Two-stage case-control association study in 738 Han Chinese Behcet's disease patients with ocular involvement and 1,873 controls identified three JAK1 SNPs (rs2780815, rs310241, rs3790532) significantly associated with disease susceptibility (Pc=0.030-1.90×10⁻⁴) with population attributable risks of 35.0%, 28.0%, and 27.0% respectively. No significant associations were found for SLC22A4, SLC22A5, or RUNX1 polymorphisms.
About SLC22A5
Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]
View all SLC22A5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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