Gene: CLRN1-AS1

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: CLRN1

Alternate names for this Gene: RP61|USH3|USH3A

Gene 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.

Gene is located in Chromosome: 3

Location in Chromosome : 3q25.1

Description of this Gene: clarin 1

Type of Gene: protein-coding

rs111033258 in CLRN1-AS1;CLRN1 gene and Retinitis Pigmentosa PMID 12080385 2002 USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.

rs111033258 in CLRN1-AS1;CLRN1 gene and Usher Syndrome, Type III PMID 16028794 2005 Audiological and vestibular features in affected subjects with USH3: a genotype/phenotype correlation.

PMID 12145752 2002 Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations.

PMID 12080385 2002 USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.

PMID 22787034 2012 The mechanosensory structure of the hair cell requires clarin-1, a protein encoded by Usher syndrome III causative gene.

PMID 15521980 2004 Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability.

PMID 26180195 2015 The missense mutation CLRN1(N48K), which affects a conserved N-glycosylation site in hCLRN1, is a common causative USH3 mutation among Ashkenazi Jews.

PMID 18273898 2008 Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.

PMID 19753315 2009 Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane.

PMID 18281613 2008 Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene.

PMID 11524702 2001 Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.

PMID 19423712 2009 Clarin-1, encoded by the Usher Syndrome III causative gene, forms a membranous microdomain: possible role of clarin-1 in organizing the actin cytoskeleton.

PMID 14569126 2003 Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III.

PMID 23304067 2012 Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3.

PMID 21697857 2011 Clinical utility gene card for: Usher syndrome.