CLRN1, Official Symbol CLRN1provided by HGNC Official Full Name clarin 1provided by HGNC Primary source HGNC:HGNC:12605 See related Ensembl:ENSG00000163646 MIM:606397; AllianceGenome:HGNC:12605 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RP61; USH3; USH3A 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] Expression Biased expression in adrenal (RPKM 2.0), duodenum (RPKM 0.5) and 1 other tissue See more Orthologs mouse all