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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 Pubmed References
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 Pubmed References
Human Polyclonal USH1C Primary Antibody for IHC (p), ELISA - ABIN547251
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
Human Polyclonal USH1C Primary Antibody for ICC, IF - ABIN4364528
Pan, Askew, Galvin, Heman-Ackah, Asai, Indzhykulian, Jodelka, Hastings, Lentz, Vandenberghe, Holt, Géléoc: Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c. in Nature biotechnology 2017
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
Mutations of USHIC can cause both Usher syndrome type IC and nonsyndromic recessive deafness DFNB18.
Crystall structure shows the interactions between harmonin protein domains and its partner Myo7a.
The structure of the Myo7b CMF/USH1C PDZ complex provides mechanistic explanations for >20 deafness-causing mutations in Myo7a CMF. Taken together, these findings suggest that binding to PDZ domains, such as those from USH1C, PDZD7, and Whirlin, is a common property of CMFs of Myo7a, Myo7b, and Myo15a.
We found a remarkable genetic heterogeneity in the studied families with USH1 with a variety of mutations, among which three were novel. These novel mutations will be included in the NADf mutation screening chip that will allow a higher diagnosis efficiency of this extremely genetically heterogeneous disease.
Harmonin can adopt two different structural states, 'open' and 'closed', as a result of the self-interaction between its domains.
In summary, our studies provide novel insight into the functional relationship between USH1 and USH2 proteins in the cochlea and the retina as well as the disease mechanisms underlying USH1 and USH2.
ANKS4B, and MYO7B form a stable ternary complex for anchoring microvilli tip-link cadherins
harmonin and villin autoantibodies are sensitive and specific markers of IPEX, differentiate IPEX, including atypical cases, from other early childhood disorders associated with enteropathy
We localized proteins encoded by the top two regulated genes, TBL1X and USH1C, using immunohistochemistry to placental stem and anchoring villi associated with active contractile function.
Description of the spectrum of mutations in USHIC in 374 families with autosomal recessive, non-syndromic hearing loss from India.
This is the first report of a mutation in a known USH1 gene that causes late onset rather than congenital sensorineural hearing loss.
The data highlight the ability of ZFNs to induce targeted homologous recombination and mediate gene repair in USH.
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, USH1C, and USH1G 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 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
Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness.
the shaping of the hair bundle relies on a functional unit composed of myosin VIIa, harmonin b and cadherin 23 that is essential to ensure the cohesion of the stereocilia
under normal housing conditions, Ush1g(-/-) and Ush1c(-/-) albino mice have dysfunctional cone photoreceptors whereas pigmented knockout animals have normal photoreceptors.
Harmonin enhances voltage-dependent facilitation of Cav1.3 channels and synchronous exocytosis in mouse inner hair cells.
MYO7A, USH1G (Sans) and CDH23 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, Pcdh15 and Sans in the inner ear
Cadherin-23, myosin VIIa 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 by means of PDZ-domain interactions
Harp + 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.
Homozygous Ush1c216A (216AA) mice are hyperactive, display circling and head tossing behavior, and do not have a Preyer reflex at 21-25 days old.
harmonin is a upper tip-link density component and contributes to establishing the sensitivity of mechanotransduction channels to displacement.
harmonin-b operates as an intracellular link that limits adaptation and engages adaptation motors
This study shows that visual defects associated with loss of ush1c function in zebrafish can be detected from the onset of vision.
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.
, autoimmune enteropathy-related antigen AIE-75
, renal carcinoma antigen NY-REN-3
, usher syndrome type-1C protein
, PDZ domain-containing protein
, Usher syndrome 1C homolog
, usher syndrome type-1C protein homolog
, harmonin a1
, Usher syndrome 1C (autosomal recessive, severe)
, harmonin pseudogene
, USH1 protein network component harmonin L homeolog
, Usher syndrome 1C L homeolog