InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: LCT

Summary

InnateDB Protein

IDBP-70908.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

LCT

Protein Name

lactase

Synonyms

LAC; LPH; LPH1;

Species

Homo sapiens

Ensembl Protein

ENSP00000264162

InnateDB Gene

IDBG-70906 (LCT)

Protein Structure

UniProt Annotation

Function

LPH splits lactose in the small intestine.

Subcellular Localization

Apical cell membrane; Single-pass type I membrane protein. Note=Brush border.

Disease Associations

Congenital lactase deficiency (COLACD) [MIM:223000]: 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, 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. {ECO:0000269PubMed:16400612}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Intestine.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.