Primary Identifier | MGI:2444177 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 320508 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable voltage-gated calcium channel activity. Predicted to be involved in calcium ion transport. Predicted to be located in membrane. Predicted to be part of voltage-gated calcium channel complex. Is expressed in several structures, including genitourinary system; inner ear; lung; tooth; and ventricular layer. Orthologous to human CACHD1 (cache domain containing 1). PHENOTYPE: Two mutations in this gene have been shown to cause developmental defects in the inner ear leading to vestibular defects and impaired hearing, and a separate null allele results in decreased grip strength and pre-wean lethality with incomplete penetrance. [provided by MGI curators] |