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Article

Alternative splice variants of the USH3A gene Clarin 1 (CLRN1).

European journal of human genetics : EJHG - 1 Jan 2011

Västinsalo Hanna, Jalkanen Reetta, Dinculescu Astra, Isosomppi Juha, Geller Scott, Flannery John G, Hauswirth William W, Sankila Eeva-Marja

Abstract excerpt

Clarin 1 (CLRN1) is a four-transmembrane protein expressed in cochlear hair cells and neural retina, and when mutated it causes Usher syndrome type 3 (USH3). The main human splice variant of CLRN1 is composed of three exons that code for a 232-aa protein. In this study, we aimed to refine the structure of CLRN1 by an examination of transcript splice variants and promoter regions. Analysis of human retinal cDNA...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 20717163
DOI: 10.1038/ejhg.2010.140
PMCID: PMC3039507

Genes

CLRN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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