Ontology highlight
ABSTRACT:
SUBMITTER: Vastinsalo H
PROVIDER: S-EPMC3039507 | biostudies-literature | 2011 Jan
REPOSITORIES: biostudies-literature
Västinsalo Hanna H Jalkanen Reetta R Dinculescu Astra A Isosomppi Juha J Geller Scott S Flannery John G JG Hauswirth William W WW Sankila Eeva-Marja EM
European journal of human genetics : EJHG 20100818 1
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 revealed 11 CLRN1 splice variants, of which 5 have not been previously reported. We st ...[more]