Aliases for LCT Gene
External Ids for LCT Gene
Previous GeneCards Identifiers for LCT Gene
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]
GeneCards Summary for LCT Gene
LCT (Lactase) is a Protein Coding gene. Diseases associated with LCT include Lactase Deficiency, Congenital and Lactose Intolerance. Among its related pathways are Glycosaminoglycan metabolism and Galactose metabolism. Gene Ontology (GO) annotations related to this gene include hydrolase activity, hydrolyzing O-glycosyl compounds and lactase activity. An important paralog of this gene is KL.
UniProtKB/Swiss-Prot Summary for LCT Gene
LPH splits lactose in the small intestine.