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The official name of this gene is “lactase.”
LCT is the gene's official symbol. The LCT gene is also known by other names, listed below.
The LCT gene provides instructions for making an enzyme called lactase. This enzyme helps to digest lactose, a sugar found in milk and other dairy products.
Lactase is produced by cells that line the walls of the small intestine. These cells, called intestinal epithelial cells, have finger-like projections called microvilli that absorb nutrients from food as it passes through the intestine so they can be absorbed into the bloodstream. Based on their appearance, groups of these microvilli are known collectively as the brush border. Lactase functions at the brush border to break down lactose into smaller sugars called glucose and galactose for absorption.
At least nine LCT gene mutations cause congenital lactase deficiency, also called congenital alactasia. In this disorder, infants are unable to break down lactose (lactose intolerance) in breast milk or formula. The LCT gene mutations change single protein building blocks (amino acids) in the lactase enzyme or result in an enzyme that is abnormally short. The mutations are believed to interfere with the function of the lactase enzyme, leading to undigested lactose in the small intestine and causing severe diarrhea.
Lactose intolerance in adulthood is caused by gradually decreasing activity (expression) of the LCT gene after infancy, which occurs in most humans.
Cytogenetic Location: 2q21
Molecular Location on chromosome 2: base pairs 135,787,844 to 135,837,179
The LCT gene is located on the long (q) arm of chromosome 2 at position 21.
More precisely, the LCT gene is located from base pair 135,787,844 to base pair 135,837,179 on chromosome 2.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about LCT helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
acids ; brush border ; congenital ; deficiency ; enzyme ; epithelial ; galactose ; gene ; glucose ; hydrolase ; intestine ; microvilli ; protein
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.