Lactase (LCT) ELISA Kit for Human

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 3.2.1.62; EC 3.2.1.108; Membrane protein, integral; Carbohydrate Metabolism - galactose; Hydrolase

Chromosomal Location of Human Ortholog: 2q21

Cellular Component: membrane; integral to plasma membrane; apical plasma membrane; plasma membrane

Molecular Function: lactase activity; glycosylceramidase activity

Biological Process: polysaccharide digestion; carbohydrate metabolic process; pathogenesis

Disease: Lactase Deficiency, Congenital