Rabbit anti-Human USH1C Polyclonal Antibody

Uniprot Id

Q9Y6N9

Target Species

Human

Target Name

USH1C

Target Full Name

Harmonin

Target Function

Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal development and maintenance of cochlear hair cell bundles. As part of the intermicrovillar adhesion complex/IMAC plays a role in brush border differentiation, controlling microvilli organization and length. Probably plays a central regulatory role in the assembly of the complex, recruiting CDHR2, CDHR5 and MYO7B to the microvilli tips.

Target Involvement

Usher syndrome 1C (USH1C); Deafness, autosomal recessive, 18A (DFNB18A)

Target Subcellular Location

Cytoplasm, cytosol. Cytoplasm, cytoskeleton. Cell projection, microvillus.

Target Tissue Specificity

Expressed in small intestine, colon, kidney, eye and weakly in pancreas. Expressed also in vestibule of the inner ear.

Target Synonyms

AIE 75; AIE75; Antigen NY CO 38/NY CO 37; Antigen NY-CO-38/NY-CO-37; Autoimmune enteropathy related antigen AIE 75; Autoimmune enteropathy related antigen AIE75; Autoimmune enteropathy-related antigen AIE-75; Deafness autosomal recessive 18; DFNB 18; DFNB18; Harmonin; NY CO 37; NY CO 38; PDZ 45; PDZ 73; PDZ 73 protein; PDZ 73/NY CO 38; PDZ45; PDZ73; PDZ73 protein; Protein PDZ-73; Renal carcinoma antigen NY REN 3; Renal carcinoma antigen NY-REN-3; USH 1C; USH1C; USH1C_HUMAN; Ush1cpst; Usher syndrome 1C (autosomal recessive severe); Usher syndrome 1C; Usher syndrome type 1C protein; Usher syndrome type-1C protein

Target Background

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.