Gene Symbol | CLRN1 |
Entrez Gene ID | 7401 |
Full Name | clarin 1 |
Synonyms | RP61,USH3,USH3A |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Usher syndrome, type 3A, 276902 (3); Retinitis pigmentosa 61, 614180 (3) |