| Primary Identifier | MGI:2151016 | Organism | mouse, laboratory |
| Chromosome | 19 | NCBI Gene Number | 13409 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables voltage-gated calcium channel activity. Contributes to mechanosensitive monoatomic ion channel activity. Acts upstream of or within several processes, including auditory receptor cell development; detection of mechanical stimulus involved in sensory perception of sound; and vestibular reflex. Located in external side of plasma membrane and stereocilium tip. Is expressed in sensory organ and skeleton. Used to study autosomal dominant nonsyndromic deafness 36 and autosomal recessive nonsyndromic deafness 7. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 36; autosomal recessive nonsyndromic deafness 7; and sensorineural hearing loss. Orthologous to human TMC1 (transmembrane channel like 1). PHENOTYPE: Mutant mice are characterized by progressive degeneration of the cochlear inner hair cells and concomitant deafness. Different alleles causing progressive deafness or profound congenital deafness. [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
