Primary Identifier | MGI:99532 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 17258 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and protein kinase binding activity. Involved in several processes, including mitochondrion distribution; positive regulation of macromolecule biosynthetic process; and ventricular cardiac myofibril assembly. Acts upstream of or within positive regulation of D-glucose import and positive regulation of DNA-templated transcription. Located in chromatin and nucleus. Is expressed in several structures, including brain; embryo mesenchyme; genitourinary system; heart; and sensory organ. Human ortholog(s) of this gene implicated in dilated cardiomyopathy. Orthologous to human MEF2A (myocyte enhancer factor 2A). PHENOTYPE: Inactivation of this gene results in cardiac sudden death. Mice dying in the early postnatal period exhibit ventricular dilation, while mice dying in adulthood show a reduced number of mitochondria in the heart. [provided by MGI curators] |