Primary Identifier | MGI:894644 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 12296 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables actin filament binding activity and voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels. Acts upstream of or within chemical synaptic transmission and visual perception. Part of voltage-gated calcium channel complex. Is active in photoreceptor ribbon synapse. Is expressed in several structures, including alimentary system; brain; eye; genitourinary system; and heart. Human ortholog(s) of this gene implicated in Brugada syndrome 4; hypertension; and hypertrophic cardiomyopathy. Orthologous to human CACNB2 (calcium voltage-gated channel auxiliary subunit beta 2). PHENOTYPE: Mice homozygous for a null allele exhibit lethality at E10.5 with growth retardation, abnormal yolk vasculature and abnormal cardiac development and function. [provided by MGI curators] |