Primary Identifier | MGI:1925847 | Organism | mouse, laboratory |
Chromosome | 18 | NCBI Gene Number | 225288 |
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. Acts upstream of or within cardiac myofibril assembly; negative regulation of actin filament polymerization; and sarcomere organization. Predicted to be located in striated muscle thin filament. Predicted to be active in cytoplasm and cytoskeleton. Is expressed in several structures, including central nervous system; genitourinary system; gut; heart; and musculoskeletal system. Human ortholog(s) of this gene implicated in familial hypertrophic cardiomyopathy. Orthologous to human FHOD3 (formin homology 2 domain containing 3). PHENOTYPE: Mice homozygous for a knock-out reporter allele exhibit abnormal premyofibril maturation, impaired heart development, pericardial effusion and embryonic lethality. [provided by MGI curators] |