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]
Forensic Context
A study in humans identified the CLRN1 as a differentially expressed mRNA that was upregulated in the peripheral whole blood of sepsis patients compared to healthy controls [Qin et al. DOI:10.1097/JCMA.0000000000000209].