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clrn1

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Official Full Name
clarin 1
Background
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.
Synonyms
CLRN1; clarin 1; USH3, USH3A, Usher syndrome 3A; clarin-1; A 130002 D 11 Rik; A130002D11Rik; CLRN 1; USH 3; Ush 3a; USH3; Ush3a; Usher syndrome type 3 protein; Usher syndrome type-3 protein; RP61; zgc:91933