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Immunogen sequence: ASEVKIHHL SEKIANYKEG TYVYKTQSEK YTTSFWVIFF CFFVHFLNGL LIRLAGFQFP FAKSKDAETT NVAADLMY (156-232 aa encoded by BC074970)
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Clarin-1; Usher syndrome 3A homolog; Usher syndrome type-3 protein; Usher syndrome type-3 protein homolog
Gene Aliases: A130002D11Rik; CLRN1; RP61; USH3; USH3A
UniProt ID: (Human) P58418, (Mouse) Q8K445
Entrez Gene ID: (Human) 7401, (Mouse) 229320
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