clarin 1 Products

Description

This gene encodes a protein that contains a cytosolic N-terminus, multiple helical transmembrane domains, and an endoplasmic reticulum membrane retention signal, TKGH, in the C-terminus. The encoded protein may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIIa. Multiple transcript variants encoding distinct isoforms have been identified for this gene.

Bioinformatics

Uniprot	P58418 Human
Product By Gene ID	7401
Alternate Names	clarin 1 clarin-1 USH3 USH3AUsher syndrome type-3 protein Usher syndrome 3A

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