Aliases for CLRN1 Gene
External Ids for CLRN1 Gene
Previous HGNC Symbols for CLRN1 Gene
Previous GeneCards Identifiers for 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, Jul 2008]
GeneCards Summary for CLRN1 Gene
UniProtKB/Swiss-Prot Summary for CLRN1 Gene
May have a role in the excitatory ribbon synapse junctions between hair cells and cochlear ganglion cells and presumably also in analogous synapses within the retina.