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CLRN1 clarin 1

Also known as: RP61; USH3; USH3A


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]

Associated conditions

See all available tests in GTR for this gene

Retinitis pigmentosaSee labs
Retinitis pigmentosa 61
MedGen: C3280041OMIM: 614180GeneReviews: Not available
See labs
Usher syndrome, type 3A
MedGen: C1568248OMIM: 276902GeneReviews: Not available
See labs

Genomic context

Chromosome: 3; NC_000003.12 (150926163..150972999, complement)
Total number of exons:


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