Primary Identifier | MGI:2685089 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 237636 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Predicted to enable several functions, including cholesterol binding activity; myosin V binding activity; and protein homodimerization activity. Involved in cholesterol transport and intestinal cholesterol absorption. Acts upstream of or within cholesterol homeostasis. Predicted to be located in apical plasma membrane and brush border membrane. Predicted to be active in plasma membrane. Orthologous to human NPC1L1 (NPC1 like intracellular cholesterol transporter 1). PHENOTYPE: Mice homozygous for a targeted null mutation exhibit normal intestinal development, fertility and plasma cholesterol and triglyceride levels; however, intestinal cholesterol absorption was substantially reduced. [provided by MGI curators] |