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 8.0.0) Enables enzyme binding activity. Involved in neurotransmitter receptor transport to postsynaptic membrane and 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; genitourinary system; gut; respiratory system; 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] |