Primary Identifier | MGI:87909 | Organism | mouse, laboratory |
Chromosome | 19 | NCBI Gene Number | 11475 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables protein kinase binding activity. Acts upstream of or within regulation of blood pressure and vascular associated smooth muscle contraction. Located in actin cytoskeleton; motile cilium; and smooth muscle contractile fiber. Is expressed in several structures, including alimentary system; cardiovascular system; eye; genitourinary system; and respiratory system. Human ortholog(s) of this gene implicated in Moyamoya disease and thoracic aortic aneurysm. Orthologous to human ACTA2 (actin alpha 2, smooth muscle). PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired vascular contractility and blood pressure homeostasis, increased blood-retina barrier permeability, and reduced retinal cone and rod function. [provided by MGI curators] |