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

Gene: CLRN1-AS1

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

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rs374390376 in CLRN1;CLRN1-AS1 gene and RETINITIS PIGMENTOSA 61 PMID 21310491 2011 CLRN1 mutations cause nonsyndromic retinitis pigmentosa.

rs111033267 in CLRN1;CLRN1-AS1 gene and Retinitis Pigmentosa PMID 12080385 2002 USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.

rs111033267 in CLRN1;CLRN1-AS1 gene and Usher Syndrome, Type III PMID 24596593 2014 Strategies for genetic study of hearing loss in the Brazilian northeastern region.

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

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

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

PMID 15521980 2004 It is noticeable that, whereas C40G family is clinically compatible with Usher syndrome type III due to the progression of the hearing loss, Y63X family could be diagnosed as Usher syndrome type I because the hearing impairment is profound and stable.

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

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

PMID 22952768 2012 Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures.

PMID 17407589 2007 Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population.

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

PMID 21675857 2011 A novel 5-bp deletion in Clarin 1 in a family with Usher syndrome.

PMID 17893653 2007 Two truncating USH3A mutations, including one novel, in a German family with Usher syndrome.

PMID 16963483 2007 Development of a genotyping microarray for Usher syndrome.

PMID 22135276 2012 Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.