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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. Zusätzlich bieten wir Ihnen und viele weitere Produktgruppen zu diesem Protein an.
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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.
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 (zeige MYO7A Antikörper) and USH2A (zeige USH2A Antikörper), and two families with CLRN1 and USH2A (zeige USH2A Antikörper).
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.
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.
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 (zeige USH2A Antikörper) share patterns of rod and cone dysfunction and retinal structural abnormalities.
clarin-1 has a role in the regulation and homeostasis of actin filaments
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