Primary Identifier | MGI:1913063 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 59006 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables actin binding activity. Involved in several processes, including negative regulation of calcineurin-NFAT signaling cascade; sarcomere organization; and skeletal muscle fiber adaptation. Located in Z disc and actin cytoskeleton. Is expressed in several structures, including diaphragm; foregut; heart; liver; and skeletal musculature. Human ortholog(s) of this gene implicated in hypertrophic cardiomyopathy 16. Orthologous to human MYOZ2 (myozenin 2). PHENOTYPE: Homozygous null mutants show an excess of skeletal muscle fibers and chronically activated hypertrophic gene program despite the absence of hypertrophy. However, stressed null mutants do form cardiac hypertrophy. [provided by MGI curators] |