CLRN1

Clarin-1 is a is_associated_with::protein that in humans is encoded by the CLRN1 is_associated_with::gene.

Function
This gene encodes a protein that contains a cytosolic is_associated_with::N-terminus, multiple helical transmembrane domains, and an is_associated_with::endoplasmic reticulum membrane retention signal, TKGH, in the is_associated_with::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 is_associated_with::Usher syndrome type IIIa. Multiple transcript variants encoding distinct isoforms have been identified for this gene.