TMC1 Antibody – Rabbit Polyclonal

This gene is considered a member of a gene family predicted to encode transmembrane proteins. The specific function of this gene is unknown; however, it is known to be required for normal function of cochlear hair cells. Mutations in this gene have been associated with progressive postlingual hearing loss and profound prelingual deafness. [provided by RefSeq, Jul 2008]

TMC1: Required for the normal function of cochlear hair cells. Defects in TMC1 are the cause of deafness autosomal dominant type 36 (DFNA36). DFNA36 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA36 is a bilateral hearing loss, and begins at 5-10 years of age. It progresses to profound deafness within 10-15 years. Defects in TMC1 are the cause of deafness autosomal recessive type 7 (DFNB7); also known as autosomal recessive neurosensory deafness type 11 (DFNB11). This hearing loss is congenital and profound. Belongs to the TMC family.

Protein type: Membrane protein, multi-pass; Membrane protein, integral

Chromosomal Location of Human Ortholog: 9q21.12

Cellular Component: integral to membrane; stereocilium bundle tip; external side of plasma membrane

Molecular Function: voltage-gated calcium channel activity

Biological Process: vestibular reflex; auditory receptor cell development; detection of mechanical stimulus involved in sensory perception of sound

Disease: Deafness, Autosomal Recessive 7; Deafness, Autosomal Dominant 36