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Cancer tissues displayed weak to moderate cytoplasmic positivity. Lymphomas along with several cases of melanomas, skin and lung cancer were negative.
GENE INFORMATION
Gene name
CLRN1 (HGNC Symbol)
Synonyms
RP61, USH3, USH3A
Description
Clarin 1 (HGNC Symbol)
Entrez gene summary
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. [provided by RefSeq, Jul 2008]