Primary Identifier | MGI:894806 | Organism | mouse, laboratory |
Chromosome | 16 | NCBI Gene Number | 107589 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables enzyme binding activity. Involved in tonic smooth muscle contraction. Acts upstream of or within cellular response to calcium ion; cellular response to potassium ion; and cellular response to xenobiotic stimulus. Located in cell-cell junction. Is expressed in several structures, including central nervous system; heart; liver; and retina. Human ortholog(s) of this gene implicated in adult respiratory distress syndrome; asthma; coronary artery disease; megacystis-microcolon-intestinal hypoperistalsis syndrome; and thoracic aortic aneurysm. Orthologous to human MYLK (myosin light chain kinase). PHENOTYPE: Mice that lack the isoform abundant in endothelial cells show a reduced susceptibility to acute lung injury. Mice lacking the smooth muscle isoform exhibit partial pre- or neonatal lethality, short small intestine and impaired smooth muscle contraction in the colon. [provided by MGI curators] |