Rabbit anti-Human USH1C  Monoclonal Antibody | anti-USH1C  antibody

Rabbit anti Human USH1C  Monoclonal Antibody

Cat. Num. AAA2544045

• Gene Names: USH1C; PDZ73; AIE-75; DFNB18; PDZ-45; PDZ-73; PDZD7C; DFNB18A; NY-CO-37; NY-CO-38; ush1cpst; PDZ-73/NY-CO-38
• Reactivity: Human
• Applications: ELISA
• Synonyms: USH1C ; Monoclonal Antibody; Rabbit anti Human USH1C Monoclonal Antibody; anti-USH1C antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Monoclonal
• Isotype: IgG
• Sequence Length: 533

• Applicable Applications for anti-USH1C antibody: ELISA (EIA)
• Application Notes: ELISA: 0.1-0.2 mug/mL. This antibody can be used at 0.1-0.2 mug/mL with the appropriate secondary reagents to detect Human USH1C/Harmonin. The detection limit for Human USH1C/Harmonin is approximately 0.00975 ng/well.
• Immunogen: Recombinant Human USH1C/Harmonin protein
• Buffer: 0.2 mum filtered solution in PBS with 5% trehalose
• Preparation and Storage: This antibody can be stored at 2 degree C- 8 degree C for one month without detectable loss of activity. Antibody products are stable for twelve months from date of receipt when stored at -20 degree C to -80 degree C. Preservative-Free. Sodium azide is recommended to avoid contamination (final concentration 0.05%-0.1%). It is toxic to cells and should be disposed of properly. Avoid repeated freeze-thaw cycles.

Related Product Information for anti-USH1C  antibody

Harmonin, also known as Antigen NY-CO-38/NY-CO-37, Autoimmune enteropathy-related antigen AIE-75, Protein PDZ-73, Renal carcinoma antigen NY-REN-3, Usher syndrome type-1C protein and USH1C, is a protein which is expressed in small intestine, colon, kidney, eye and weakly in pancreas. USH1C is expressed also in vestibule of the inner ear. USH1C contains 3 PDZ (DHR) domains. USH1C may be involved in protein-protein interaction. Defects in USH1C are the cause of Usher syndrome type 1C (USH1C), also known as Usher syndrome type I Acadian variety. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). Defects in USH1C are also the cause of deafness autosomal recessive type 18 (DFNB18) which is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.

NCBI and Uniprot Product Information

• NCBI GI #: 16359185
• NCBI GeneID: 10083
• Molecular Weight: 101,344 Da
• NCBI Official Full Name: USH1C protein
• NCBI Official Synonym Full Names: USH1 protein network component harmonin
• NCBI Official Symbol: USH1C
• NCBI Official Synonym Symbols: PDZ73; AIE-75; DFNB18; PDZ-45; PDZ-73; PDZD7C; DFNB18A; NY-CO-37; NY-CO-38; ush1cpst; PDZ-73/NY-CO-38
• NCBI Protein Information: harmonin
• UniProt Protein Name: Harmonin
• UniProt Gene Name: USH1C
• UniProt Synonym Gene Names: AIE75
• UniProt Entry Name: USH1C_HUMAN

NCBI Description

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. [provided by RefSeq, Mar 2009]

Uniprot Description

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 (PubMed:24725409, PubMed:26812018).