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Human USH1C Protein expressed in Escherichia coli (E. coli) - ABIN667114
Ouyang, Xia, Verpy, Du, Pandya, Petit, Balkany, Nance, Liu: Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness. in Human genetics 2002
Show all 2 references for ABIN667114
Harmonin enhances voltage-dependent facilitation of Cav1.3 (show CACNA1D Proteins) channels and synchronous exocytosis in mouse inner hair cells.
MYO7A, USH1G (Sans) and CDH23 (show CDH23 Proteins) 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 (show PCDH15 Proteins) and Sans in the inner ear
Cadherin-23 (show CDH23 Proteins), 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
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
Harp (show C5orf13 Proteins) + 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 form a stable ternary complex for anchoring microvilli tip-link cadherins
harmonin and villin autoantibodies are sensitive and specific markers of IPEX (show FOXP3 Proteins), differentiate IPEX (show FOXP3 Proteins), including atypical cases, from other early childhood disorders associated with enteropathy
We localized proteins encoded by the top two regulated genes, TBL1X (show TBL1X Proteins) 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, USH1C, and USH1G (show USH1G Proteins) 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 Proteins) 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