Primary Identifier | MGI:2135672 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 93677 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable actin monomer binding activity and tropomyosin binding activity. Involved in actin filament polymerization and sarcomere organization. Predicted to be located in actin filament; cardiac myofibril; and sarcomere. Predicted to be active in striated muscle thin filament. Predicted to colocalize with M band. Is expressed in several structures, including aorta; central nervous system; foregut; heart; and skeletal musculature. Used to study dilated cardiomyopathy. Human ortholog(s) of this gene implicated in dilated cardiomyopathy 2G. Orthologous to human LMOD2 (leiomodin 2). PHENOTYPE: Homozygous disruption of this gene results in thin filaments in the heart, cardiac contractile dysfunction, abnormal myocardial fiber ultrastucture, dilated cardiomyopathy, and premature death. [provided by MGI curators] |