Entrez 7401 | Ensembl ENSG00000163646 | |
Aliases CLRN1, RP61, USH3, USH3A, clarin 1 External IDs MGI: 2388124 HomoloGene: 17738 GeneCards: CLRN1 |
Function
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.
References
CLRN1 Wikipedia(Text) CC BY-SA