Entrez gene ID | | 7401 |
Official gene symbol | | CLRN1 |
Full name | | clarin 1 |
Aliases | | ,USH3,USH3A, |
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] |
Location | | Chromosome: 3 Locus: 3q25 |
Gene position | | 150690786 - 150643950 Map Viewer |
Gene orientation | | minus |
Gene size | | 46837 bp |
Gene sequence |
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OMIM ID | | 606397 |
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