CLRN1 explained

Clarin-1 is a protein that in humans is encoded by the CLRN1 gene.^{[1] [2]}

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.^[3]

Further reading

• Adato A . Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance . Am. J. Hum. Genet. . 65 . 1 . 261–5 . 1999 . 10364543 . 10.1086/302438 . 1378101 . vanc. Kalinski H . Weil D . 3 . Chaib . Hassan . Korostishevsky . Michael . Bonne-Tamir . Batsheva .
• Joensuu T . A sequence-ready map of the Usher syndrome type III critical region on chromosome 3q . Genomics . 63 . 3 . 409–16 . 2000 . 10704288 . 10.1006/geno.1999.6096 . vanc. Hämäläinen R . Lehesjoki AE . 3 . De La Chapelle . Albert . Sankila . Eeva-Marja .
• Joensuu T . Mutations in a Novel Gene with Transmembrane Domains Underlie Usher Syndrome Type 3 . Am. J. Hum. Genet. . 69 . 4 . 673–84 . 2001 . 11524702 . 10.1086/323610 . 1226054 . vanc. Hämäläinen R . Yuan B . 3 . Johnson . Cheryl . Tegelberg . Saara . Gasparini . Paolo . Zelante . Leopoldo . Pirvola . Ulla . Pakarinen . Leenamaija .
• Adato A . USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses . Eur. J. Hum. Genet. . 10 . 6 . 339–50 . 2003 . 12080385 . 10.1038/sj.ejhg.5200831 . vanc. Vreugde S . Joensuu T . 3 . Avidan . Nili . Hamalainen . Riikka . Belenkiy . Olga . Olender . Tsviya . Bonne-Tamir . Batsheva . Ben-Asher . Edna . free .
• Fields RR . Usher Syndrome Type III: Revised Genomic Structure of the USH3 Gene and Identification of Novel Mutations . Am. J. Hum. Genet. . 71 . 3 . 607–17 . 2002 . 12145752 . 10.1086/342098 . 449697 . vanc. Zhou G . Huang D . 3 . Davis . Jack R. . Möller . Claes . Jacobson . Samuel G. . Kimberling . William J. . Sumegi . Janos .
• Strausberg RL . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . vanc. Feingold EA . Grouse LH . 3 . Derge . JG . Klausner . RD . Collins . FS . Wagner . L . Shenmen . CM . Schuler . GD . 2002PNAS...9916899M . free .
• Ness SL . Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III . J. Med. Genet. . 40 . 10 . 767–72 . 2003 . 14569126 . 10.1136/jmg.40.10.767 . 1735287 . vanc. Ben-Yosef T . Bar-Lev A . 3 . Madeo . AC . Brewer . CC . Avraham . KB . Kornreich . R . Desnick . RJ . Willner . JP .
• Gerhard DS . The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . vanc. Wagner L . Feingold EA . 3 . Shenmen . CM . Grouse . LH . Schuler . G . Klein . SL . Old . S . Rasooly . R .
• Aller E . Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability . Clin. Genet. . 66 . 6 . 525–9 . 2005 . 15521980 . 10.1111/j.1399-0004.2004.00352.x . vanc. Jaijo T . Oltra S . 3 . Alió . J . Galán . F . Nájera . C . Beneyto . M . Millán . JM . 44517424 .
• Plantinga RF . Serial audiometry and speech recognition findings in Finnish Usher syndrome type III patients . Audiol. Neurootol. . 10 . 2 . 79–89 . 2005 . 15650299 . 10.1159/000083363 . vanc. Kleemola L . Huygen PL . 3 . Joensuu . T. . Sankila . E.-M. . Pennings . R.J.E. . Cremers . C.W.R.J. . 32183013 .

External links

• GeneReviews/NCBI/NIH/UW entry on Retinitis Pigmentosa Overview

Notes and References

1. Sankila EM, Pakarinen L, Kaariainen H, Aittomaki K, Karjalainen S, Sistonen P, de la Chapelle A . Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q . Hum Mol Genet . 4 . 1 . 93–8 . May 1995 . 7711740 . 10.1093/hmg/4.1.93 .
2. Joensuu T, Blanco G, Pakarinen L, Sistonen P, Kaariainen H, Brown S, Chapelle A, Sankila EM . Refined mapping of the Usher syndrome type III locus on chromosome 3, exclusion of candidate genes, and identification of the putative mouse homologous region . Genomics . 38 . 3 . 255–63 . Mar 1997 . 8975700 . 10.1006/geno.1996.0626 .
3. Web site: Entrez Gene: CLRN1 clarin 1.