LCT: LPH splits lactose in the small intestine. Defects in LCT are the cause of congenital lactase deficiency (COLACD); also known as hereditary alactasia or disaccharide intolerance II. Congenital lactase deficiency is a an autosomal recessive, rare and severe gastrointestinal disorder. It is characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas. An almost total lack of LCT activity is found in jejunal biopsy material of patients with congenital lactase deficiency. Opposite to congenital lactase deficiency, adult-type hypolactasia, also known as lactose intolerance, is the most common enzyme deficiency worldwide. It is caused by developmental down-regulation of lactase activity during childhood or early adulthood. The decline of lactase activity is a normal physiological phenomenon; however, the majority of Northern Europeans have the ability to maintain lactase activity and digest lactose throughout life (lactase persistence). The down-regulation of lactase activity operates at the transcriptional level and it is associated with a noncoding variation in the MCM6 gene, located in the upstream vicinity of LCT. Belongs to the glycosyl hydrolase 1 family.
Protein type: EC 3.2.1.108; EC 3.2.1.62; Membrane protein, integral; Hydrolase; Carbohydrate Metabolism - galactose
Cellular Component: apical plasma membrane; brush border; integral to membrane; integral to plasma membrane
Molecular Function: beta-glucosidase activity; glycosylceramidase activity; hydrolase activity, hydrolyzing O-glycosyl compounds; lactase activity; transferase activity
Biological Process: carbohydrate metabolic process; response to drug; response to estrogen stimulus; response to ethanol; response to hormone stimulus; response to hypoxia; response to iron(II) ion; response to lead ion; response to nickel ion; response to nutrient; response to organic substance; response to starvation; response to sucrose stimulus
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