Samiksha Jaiswal (Editor)

CLRN1

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Species
  
Entrez
  
7401

Human
  
Ensembl
  
ENSG00000163646

Aliases
  
CLRN1, RP61, USH3, USH3A, clarin 1

External IDs
  
MGI: 2388124 HomoloGene: 17738 GeneCards: CLRN1

Clarin-1 is a protein that in humans is encoded by the CLRN1 gene.

Function

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.

References

CLRN1 Wikipedia


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