| Primary Identifier | MGI:1928842 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 58226 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable low voltage-gated calcium channel activity; scaffold protein binding activity; and voltage-gated sodium channel activity. Predicted to be involved in several processes, including positive regulation of acrosome reaction; positive regulation of cardiac muscle cell contraction; and steroid hormone biosynthetic process. Located in caveola and sarcolemma. Is active in glutamatergic synapse; postsynaptic membrane; and presynaptic active zone membrane. Is expressed in several structures, including central nervous system; future brain; gut; heart; and testis. Human ortholog(s) of this gene implicated in childhood absence epilepsy and primary hyperaldosteronism. Orthologous to human CACNA1H (calcium voltage-gated channel subunit alpha1 H). PHENOTYPE: Mutation of this locus results in constitutive coronary arteriole contraction and focal myocardial fibrosis. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
