Family

Cadherin-23 (IPR033030)

Short name: CDH23

Overlapping homologous superfamilies

None.

Family relationships

None.

Description

Cadherin-23 (CDH23) is an adhesion protein that contains several calcium dependent extracellular (EC) domains. It is required for establishing and/or maintaining the proper organisation of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal development [PMID: 15882574]. CDH23 is part of the tip-links, oblique filaments that interconnect the stereocilia of the hair bundle [PMID: 21436032].

CDH23 is associated with Usher syndrome type 1 (USH1D), isolated deafness (DFNB12) in humans, and deafness and circling behavior in waltzer mice [PMID: 11138009, PMID: 15882574].

GO terms

Biological Process

GO:0060122 inner ear receptor cell stereocilium organization
GO:0007626 locomotory behavior
GO:0007605 sensory perception of sound

Molecular Function

No terms assigned in this category.

Cellular Component

GO:0032420 stereocilium

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER