CIB3
Description
The CIB3 (calcium and integrin binding family member 3) is a protein-coding gene located on chromosome 19.
CIB3 acts as a supporting component of the sensory mechanoelectrical transduction (MET) channel found in hair cells, which are specialized sensory cells responsible for hearing and balance. It plays a key role in controlling the location and activity of this channel within hair cells.
CIB3 is also known as KIP3.
Associated Diseases
- cochleosaccular degeneration-cataract syndrome
- hearing loss, autosomal dominant 80
- spinocerebellar ataxia, autosomal recessive 24
- hydrocephaly-cerebellar agenesis syndrome
- granular corneal dystrophy type I
- cataract 5 multiple types
- pentosuria
- systemic lupus erythematosus
