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Human Polyclonal USH1C Primary Antibody for WB - ABIN1881984
Yan, Pan, Chen, Wu, Zhang: The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins. in Proceedings of the National Academy of Sciences of the United States of America 2010
Show all 4 references for ABIN1881984
Human Polyclonal USH1C Primary Antibody for IHC (p), IHC - ABIN250190
Zallocchi, Sisson, Cosgrove: Biochemical characterization of native Usher protein complexes from a vesicular subfraction of tracheal epithelial cells. in Biochemistry 2010
Show all 2 references for ABIN250190
Human Polyclonal USH1C Primary Antibody for ICC, IF - ABIN4364529
McConnell, Benesh, Mao, Tabb, Tyska: Proteomic analysis of the enterocyte brush border. in American journal of physiology. Gastrointestinal and liver physiology 2011
Human Polyclonal USH1C Primary Antibody for IHC, ELISA - ABIN185190
Verpy, Leibovici, Zwaenepoel, Liu, Gal, Salem, Mansour, Blanchard, Kobayashi, Keats, Slim, Petit: A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. in Nature genetics 2000
Harmonin enhances voltage-dependent facilitation of Cav1.3 (show CACNA1D Antibodies) channels and synchronous exocytosis in mouse inner hair cells.
MYO7A (show MYO7A Antibodies), USH1G (Sans) and CDH23 (show CDH23 Antibodies) form the upper tip-link complex in adult mice, likely in combination with USH1C (harmonin).
examine the effects of null mutation of the Ush1c gene on subcellular localization of Myo7a (show MYO7A Antibodies), Pcdh15 (show PCDH15 Antibodies) and Sans in the inner ear
Cadherin-23 (show CDH23 Antibodies), myosin VIIa (show MYO7A Antibodies) and harmonin form a ternary complex and interact with phospholipids.
The fact that Ush1c expression is much higher in the ear than in the eye suggests a different role for Ush1c in ear function than in the eye and may explain why Ush1c mutant mice do not recapitulate vision defects.
forms a complex with cadherin 23 (show CDH23 Antibodies) by means of PDZ-domain (show INADL Antibodies) interactions
the shaping of the hair bundle relies on a functional unit composed of myosin VIIa (show MYO7A Antibodies), harmonin b and cadherin 23 (show CDH23 Antibodies) that is essential to ensure the cohesion of the stereocilia
Harp (show C5orf13 Antibodies) + harmonin constitute a scaffolding complex to facilitate signal transduction in epithelia.
Rac-DOCK4-actin-binding protein harmonin-activated signaling pathway is possibly involved in regulating actin cytoskeleton organization in stereocilia of the inner ear.
harmonin is a upper tip-link density component and contributes to establishing the sensitivity of mechanotransduction channels to displacement.
Mutations of USHIC can cause both Usher syndrome type IC and nonsyndromic recessive deafness DFNB18.
ANKS4B, and MYO7B (show MYO7B Antibodies) form a stable ternary complex for anchoring microvilli tip-link cadherins
harmonin and villin autoantibodies are sensitive and specific markers of IPEX (show FOXP3 Antibodies), differentiate IPEX (show FOXP3 Antibodies), including atypical cases, from other early childhood disorders associated with enteropathy
We localized proteins encoded by the top two regulated genes, TBL1X (show TBL1X Antibodies) and USH1C, using immunohistochemistry to placental stem and anchoring villi associated with active contractile function.
Large protein assemblies formed by multivalent interactions between cadherin23 and harmonin suggest a stable anchorage structure at the tip link of stereocilia
Pathogenic mutations in MYO7A (show MYO7A Antibodies), USH1C, and USH1G (show USH1G Antibodies) have been found in four consanguineous Israeli Arab families with Usher syndrome type 1.
We report a novel molecular cause of sector retinitis pigmentosa associated with hearing loss representing a new phenotype associated with mutations in the USH1C gene.
Mutations in USH1C are responsible for 1.5% of Usher syndrome type I disease in patients of Spanish origin.
Mutations in harmonin and Sans (show USH1G Antibodies) found in USH1 patients are shown to destabilize the complex formation of the two proteins
USH1C 216G-->A mutation and the 9-repeat VNTR(t,t) allele are in complete linkage disequilibrium in the Acadian population
This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene.
, PDZ domain-containing protein
, Usher syndrome 1C homolog
, usher syndrome type-1C protein homolog
, harmonin a1
, antigen NY-CO-38/NY-CO-37
, autoimmune enteropathy-related antigen AIE-75
, renal carcinoma antigen NY-REN-3
, usher syndrome type-1C protein