Entrez Summary: The protein encoded by this gene is a component of the acellular membranes of the inner ear. Disruption of the orthologous mouse gene shows that it plays a role in auditory and vestibular functions. It is involved in fibrillar network organization, the anchoring of otoconial membranes and cupulae to the neuroepithelia, and likely in sound stimulation resistance. Mutations in this gene cause autosomal recessive nonsyndromic deafness, type 18B. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014].
UniProt Summary: Glycoprotein specific to acellular membranes of the inner ear. May be required for the anchoring of the otoconial membranes and cupulae to the underlying neuroepithelia in the vestibule. May be involved in the organization and/or stabilization of the fibrillar network that compose the tectorial membrane in the cochlea. May play a role in mechanotransduction processes (By similarity). {ECO:0000250}.
Pfam DomainsGO Terms
Pfam Domains
VWD
AbfB
C8
TIL
GO Terms
alpha-L-arabinofuranosidase activity
L-arabinose metabolic process
arabinose metabolic process
pentose metabolic process
adult locomotory behavior
adult behavior
sensory perception of sound
sensory perception of mechanical stimulus
structural molecule activity
locomotory behavior
monosaccharide metabolic process
apical plasma membrane
carbohydrate metabolic process
behavior
sensory perception
nervous system process
extracellular space
small molecule metabolic process
system process
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)