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CLRN1 / Clarin 1 is 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.
Gene Name: | clarin 1 |
Synonyms: | CLRN1, Clarin-1, RP61, USH3A, Usher syndrome type-3 protein, Clarin 1, USH3, Usher syndrome 3A |
Target Sequences: | P58418 P58418 |
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