rs16832011
This is a downstream gene variant variant in the LCT gene.
▶Research that mentions this SNP (1)
▶GJB2 mutations: Passage through IranAssociationN=1,021Hossein Najmabadi et al.(2005)· American Journal of Medical Genetics Part A
This population genetic study characterized genome-wide genetic diversity of 1021 individuals from 11 Iranian ethnic groups using the Axiom Precision Medicine Research Array (903,000 markers, 829,779 autosomal markers after QC). The authors identified a Central Iranian Cluster of genetically overlapping groups, substantial genetic heterogeneity, varying consanguinity levels, and evidence for language adoption events rather than demic replacement in Iranian history.
About LCT
The protein encoded by this gene belongs to the glycosyl hydrolase 1 family of proteins. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme is integral to the plasma membrane and has both phlorizin hydrolase activity and lactase activity. Mutations in this gene are associated with congenital lactase deficiency. Polymorphisms in this gene are associated with lactase persistence, in which intestinal lactase activity persists at childhood levels into adulthood. [provided by RefSeq, Jan 2016]
View all LCT variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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