Family

Usherin (IPR026915)

Short name: USH2A

Family relationships

None.

Description

Usherin (also known as USH2A) is a single-pass type I membrane protein that is involved in hearing and vision. Usherin interacts with collagen IV and fibronectin via its laminin EGF-like domains. Interaction with collagen may be required for stable integration into the basement membrane [PMID: 14676276, PMID: 16114888].

Defects in USH2A are the cause of Usher syndrome type 2A (USH2A). USH is a genetically heterogeneous condition characterised by the association of retinitis pigmentosa and sensorineural deafness [PMID: 9624053]. Defects in USH2A are the cause of retinitis pigmentosa type 39 (RP39). RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field [PMID: 10775529].

Contributing signatures

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