Clarin 1

Alternative Names

  • CLRN1
  • USH3A Gene
  • USH3A
  • USH3

Associated Diseases

Usher Syndrome, Type IIIA
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OMIM Number

606397

NCBI Gene ID

7401

Uniprot ID

P58418

Length

54,110 bases

No. of Exons

6

No. of isoforms

3

Protein Name

Clarin-1

Molecular Mass

25719 Da

Amino Acid Count

232

Genomic Location

chr3:150,926,162-150,972,998

Gene Map Locus
3q25.1

Description

Clarin 1, encoded by the CLRN1 gene, is a protein consisting of multiple helical transmembrane domains, a cytosolic N-terminal and a C-terminal endoplasmic-reticulum membrane retention signal (TKGH). While the exact molecular function of clarin 1 is yet to be fully characterized, it is believed to play a role in actin filament organization, auditory receptor cell stereocilium organization, equilibrioception, photoreceptor cell maintenance and cell motility.

The gene has been implicated in Usher Syndrome, type IIIA (USH3A), a disorder characterized by a combination of progressive sensorineural hearing loss and decreasing visual acuity. It has also been associated with non-syndromic Retinitis Pigmentosa 61, an ocular disorder of progressive retinal degeneration resulting in the gradual loss of peripheral vision.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NC_000003.12:g.150649557_15065992invUnited Arab EmiratesLikely PathogenicUsher Syndrome, Type IIIANC_000003.12:g.150649557_15065992inv
NM_174878.3:c.188A>CLebanonNC_000003.12:g.150972521T>GPathogenicUsher Syndrome, Type IIIANG_009168.1:g.5479A>C; NM_174878.3:c.188A>C; NP_777367.1:p.Tyr63Ser992423
NM_174878.3:c.254-649T>GSaudi ArabiaNC_000003.12:g.150942410A>CPathogenicPathogenicUsher Syndrome, Type IIIANG_009168.1:g.35590T>G; NM_174878.3:c.254-649T>G976853535834124
NM_174878.3:c.301_305delLebanonNC_000003.12:g.150941712_150941716delLikely Pathogenic, PathogenicPathogenicUsher Syndrome, Type IIIANG_009168.1:g.36286_36290del; NM_174878.3:c.301_305del; NP_777367.1:p.Val101SerfsTer2739751793248145
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