Primary Identifier | MGI:1352749 | Organism | mouse, laboratory |
Chromosome | 19 | NCBI Gene Number | 29866 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables calcium channel regulator activity. Involved in sensory perception of sound and visual perception. Predicted to be located in Golgi apparatus and plasma membrane. Predicted to be active in cytoplasm. Used to study autosomal recessive nonsyndromic deafness 93. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 93. Orthologous to human CABP2 (calcium binding protein 2). PHENOTYPE: Homozygous knockout affects calcium channels in cochlear inner hair cell synapses, resulting in hearing impairment. It also affects transmission of responses to light through the retinal circuits. [provided by MGI curators] |