Primary Identifier | MGI:1916060 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 68810 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable actin filament binding activity and cell-cell adhesion mediator activity. Predicted to be a structural constituent of muscle. Acts upstream of or within response to bacterium. Predicted to be located in actin cytoskeleton and cell-substrate junction. Predicted to be active in several cellular components, including Z disc; axon; and focal adhesion. Is expressed in diaphragm; gut; head mesenchyme; heart; and vertebral axis musculature. Used to study dilated cardiomyopathy 1CC and hypertrophic cardiomyopathy 20. Human ortholog(s) of this gene implicated in dilated cardiomyopathy 1CC and hypertrophic cardiomyopathy 20. Orthologous to human NEXN (nexilin F-actin binding protein). PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal lethality with endomyocardial fibroelastosis, cardiac hypertrophy and dilated cardiomyopathy. [provided by MGI curators] |