Symbol: Name: ID: |
CLRN1 clarin 1 GFS:2384 |
Gene name: | CLRN1 |
Chromosome: | 3q21-q25 |
Previous Symbols: | USH3, USH3A |
Previous Names: | Usher syndrome 3A |
Aliases: | |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:2388124 | Rat Genome Database ID: | RGD:628779 |
HGNC ID: | HGNC:12605 | RefSeq IDs: | NM_001195794 |
Entrez Gene ID: | 7401 | Ensembl Gene ID: | ENSG00000163646 |
VEGA IDs: | OTTHUMG00000140368 | UniProt ID: | P58418 |
UCSC ID: | uc003eyk.1 | OMIM ID: | 606397 |
Pubmed: | PMID7711740 PMID 8975700 | ||
CCDS IDs: | CCDSCCDS3153.1 CCDS CCDS35492.1 |
Clarin-1 is a protein that in humans is encoded by the CLRN1 gene.
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].
Function: May have a role in the excitory ribbon synapse junctions between hair cells and cochlear ganglion cells and presumably also in analogous synapses within the retina.
Products for CLRN1 gene
Catalog | Product Name | Application | Company |
GFS:E02384 | clarin 1; ELISA kit | ELISA | n/a |
GFS:A02384 | clarin 1; Anti | ANTIBODIES | n/a |
GFS:P02384 | clarin 1; Protien | Protien | n/a |