Primary Identifier | MGI:2151224 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 116904 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable ATP binding activity; protein serine kinase activity; and protein serine/threonine kinase activity. Involved in cardiac muscle cell differentiation. Acts upstream of or within cardiac muscle cell development. Located in nucleus. Is expressed in several structures, including brain; foregut; lung; skeletal muscle; and testis. Human ortholog(s) of this gene implicated in familial hypertrophic cardiomyopathy. Orthologous to human ALPK3 (alpha kinase 3). PHENOTYPE: Mice homozygous for a gene-trappped allele exhibit altered cardiomyocyte architecture and develop a non-progressive cardiomyopathy that presents features of both hypertrophic and dilated forms of cardiomyopathy, [provided by MGI curators] |