Full Name: Lactase
Genomic Location: Chromosome 2:135,787,845-135,837,184
Protein Size: 1927 amino acids
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.
- rs4988235 is linked to LCT, it is located 14,000 bases downstream.
- Population frequencies are approximately 59% for the reference allele (C) and 42% for the alternate allele (T).
- Studies suggest the C allele is associated with lactose intolerance as an adult.