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CLRN1 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. Additionally we are shipping and many more products for this protein.
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The zebrafish clrn1-/- mutants reported here show that Clrn1 is an essential hair bundle protein.
Clarin-1 is functionally important for mechanotransduction channel activity and for proper localization of synaptic components.
In the retina, Clarin-1 localizes to lateral cell contacts between photoreceptors and is associated with the outer limiting membrane and subapical processes emanating from Muller glial cells.
Study founds 1 deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon that underlies severe Usher syndrome in a family on the Arabian Peninsula.
We report here novel homozygous mutations in various genes causing USH, extending the spectrum of causative mutations. We also prove combined sequencing techniques as useful tools to identify novel disease-causing mutations. To the best of our knowledge, this is the largest report of a genetic analysis of Israeli and Palestinian families (n = 74) with different USH subtypes.
This is the first report of Usher syndrome type 3 with a CLRN1 gene mutation in Asian populations.
Possible digenism could not be excluded in two families segregating genomic variations in both MYO7A and USH2A, and two families with CLRN1 and USH2A.
Two novel mutations in the CLRN1 gene, p.R207X and p.I168N, have been found in patients with Usher syndrome type 3.
High-resolution measures of retinal structure demonstrate patterns of cone loss associated with CLRN1 mutations.
This study confirmed using a novel mouse model carrying a Clrn1N48K knock-in mutation to investigate the consequence of the missense mutation N48K in mCLRN1 in vivo.
Here we describe a novel deletion in CLRN1. Our data support previously reported intra familial variability in the clinical features of Usher syndrome type I and III.
Retinitis pigmentosa-associated mutations p.Pro31Leu and p.Leu154Trp may represent hypomorphic mutations, because substituted amino acids in transmembrane domains remain polar.
The complexity of the CLRN1 gene and the identification of multiple splice variants may partially explain why mutations in CLRN1 result in substantial variation in clinical phenotype.
a role for clarin-1 in hair cell and photoreceptor cell synapses, as well as a common pathophysiological pathway for different Usher syndromes
revised structure of USH3 gene: new translation start site, 5' untranslated region, and transcript encoding 232-amino acid protein; four new disease-causing mutations; identified mouse and rat orthologues, and two human paralogues on chromosomes 4 and 10
USH3A and USH2A share patterns of rod and cone dysfunction and retinal structural abnormalities.
clarin-1 has a role in the regulation and homeostasis of actin filaments
Part of the pathogenesis of USH3 may be associated with defective intracellular trafficking as well as decreased stability of mutant CLRN1 proteins.
Mutations in the USH3 gene underlie Usher syndrome type 3.
CLRN1 expression is potentially supported by a variety of retinal cells, and the right combination of AAV vector dose, promoter, and delivery method needs to be selected to develop safe therapies for USH3 disorder.
Mutations that are Clrn1-/- biallelic cause visual defects when placed under A/J background.
A novel synaptic Usher complex comprised of clarin-1 and specific isoforms of CDH23, PCDH15 and VLGR1, was identified.
Clarin-1 ribozyme induced apoptosis of cochlear hair cells and cells of stria vascularis. Suggest role for apoptosis in progressin of Usher syndrome type 3.
Clrn1 is necessary for hair cell function and associated neural activation.
The subcellular localization of clarin-1 in hair cells and photoreceptors suggests it functions at both the basal and apical poles of neurosensoriepithelia.
CLRN1 is unnecessary in the murine retina but essential for normal cochlear development and 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.
, clarin 1
, Usher syndrome type-3 protein
, Usher syndrome 3A homolog
, usher syndrome type-3 protein homolog
, Usher syndrome type III A