Primary Identifier | MGI:2147319 | Organism | mouse, laboratory |
Chromosome | 18 | NCBI Gene Number | 225115 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables actin filament binding activity. Acts upstream of or within muscle cell differentiation. Located in several cellular components, including costamere; focal adhesion; and sarcolemma. Is expressed in several structures, including exoccipital bone; gut; meninges; pharyngo-tympanic tube; and skin. Human ortholog(s) of this gene implicated in myofibrillar myopathy 10. Orthologous to human SVIL (supervillin). PHENOTYPE: Mice homozygous for a knock-out allele exhibit enhanched adhesion and thrombus formation. [provided by MGI curators] |