FIGURE: 1 / 1
This target displays homology in the following species: Cow: 86%; Dog: 93%; Guinea Pig: 93%; Horse: 93%; Human: 100%; Mouse: 79%; Rabbit: 86%; Rat: 86%
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.
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Protein Aliases: Clarin-1; Usher syndrome type-3 protein
Gene Aliases: CLRN1; RP61; USH3; USH3A
UniProt ID: (Human) P58418
Entrez Gene ID: (Human) 7401