Gene: LCT

Alternate names for this Gene: LAC|LPH|LPH1

Gene Summary: 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2q21.3

Description of this Gene: lactase

Type of Gene: protein-coding

rs1030766 in LCT gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs121908937 in LCT gene and Lactase Deficiency, Congenital PMID 16400612 2006 Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency.

rs16832011 in LCT gene and Phospholipid measurement PMID 21829377 2011 Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.

rs35837297 in LCT gene and White Blood Cell Count procedure PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.