Rabbit anti-Human Harmonin/USH1C Polyclonal Antibody | anti-USH1C antibody

Anti-Harmonin/USH1C Antibody, Rabbit Polyclonal

Cat. Num. AAA8103364

• 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: Western Blot, ELISA, Immunohistochemistry, Immunoprecipitation
• Purity: Protein A & Antigen Affinity
• Synonyms: Harmonin/USH1C; Polyclonal Antibody; Anti-Harmonin/USH1C Antibody; Rabbit Polyclonal; USH1C/Harmonin Antibody; Rabbit PAb; Antigen Affinity Purified; Usher syndrome 1C (autosomal recessive; severe); Anti-AIE-75 Antibody; Anti-DFNB18 Antibody; Anti-DFNB18A Antibody; Anti-NY-CO-37 Antibody; Anti-NY-CO-38 Antibody; Anti-PDZ-45 Antibody; Anti-PDZ-73 Antibody; Anti-PDZ-73/NY-CO-38 Antibody; Anti-PDZ73 Antibody; Anti-PDZD7C Antibody; Anti-ush1cpst Antibody; anti-USH1C antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: Rabbit IgG
• Specificity: Human USH1C/Harmonin
• Purity/Purification: Protein A & Antigen Affinity
• Form/Format: Liquid; 0.2um filtered solution in PBS

• Applicable Applications for anti-USH1C antibody: Western Blot (WB), ELISA (EIA), Immunohistochemistry-Paraffin (IHC-P), Immunoprecipitation (IP)
• Application Notes: WB: 1:500-1:2000; ELISA: 1:5000-1:10,000; IHC-P: 1:500-1:2000; IP: 2-4uL/mg of lysate
• Immunogen: Recombinant Human USH1C/Harmonin protein
• Conjugation: Unconjugated
• Preparation: Produced in rabbits immunized with purified, recombinant Human USH1C/Harmonin (rh USH1C/Harmonin). USH1C/Harmonin specific IgG was purified by Human USH1C/Harmonin affinity chromatography.
• Preparation and Storage: This antibody can be stored at 2-8 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. Avoid repeated freeze-thaw cycles.

Immunohistochemistry (IHC)

(Immunochemical staining of human USH1C in human kidney with rabbit polyclonal antibody (1:1000, formalin-fixed paraffin embedded sections).)

Immunohistochemistry (IHC)

(Immunochemical staining of human USH1C in human colon-carcinoma with rabbit polyclonal antibody (1:1000, formalin-fixed paraffin embedded sections). Positive staining was localized to epithelium. The left panel: tissue incubated with primary antibody; The right panel: tissue incubated with the mixture of primary antibody and antigen (recombinant protein).)

Immunoprecipitation (IP)

(USH1C was immunoprecipitated using:Lane A:0.5 mg Caco-2 Whole Cell Lysate2 uL anti-USH1C rabbit polyclonal antibody and 15 ul of 50 % Protein G agarose.Primary antibody:Anti-USH1C rabbit polyclonal antibody,at 1:500 dilution Secondary antibody:Dylight 800-labeled antibody to rabbit IgG (H+L), at 1:5000 dilution Developed using the odssey technique.Performed under reducing conditions.Predicted band size: 75 kDaObserved band size: 70 kDa)

Western Blot (WB)

(Anti-USH1C rabbit polyclonal antibody at 1:500 dilutionLane A: Caco-2 Whole Cell LysateLysates/proteins at 60 ug per lane.SecondaryGoat Anti-Rabbit IgG H&L (Dylight800) at 1/10000 dilution.Developed using the Odyssey technique. Performed under reducing conditions.Predicted band size:73 kDaObserved band size:70 kDa(We are unsure as to the identity of these extra bands.))

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 that 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.

References

Verpy, E. et al., 2000, Nat Genet. 26 (1):51-5. Weil D., et al., 2003, Hum. Mol. Genet. 12:463-471. Reiners, J. et al., 2005, Hum Mol Genet. 14 (24):3933-43. Yan, D. et al., 2006, Mol Biol. 357 (3):755-64.

NCBI and Uniprot Product Information

• NCBI GI #: 160113087
• NCBI GeneID: 10083
• UniProt Accession #: Q9Y6N9; Q7RTU8; Q96B29; Q9UM04; Q9UM17; Q9UPC3; A8K423
• Molecular Weight: 552
• NCBI Official Full Name: Harmonin
• NCBI Official Synonym Full Names: Usher syndrome 1C (autosomal recessive, severe)
• 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; antigen NY-CO-38/NY-CO-37; usher syndrome type-1C protein; renal carcinoma antigen NY-REN-3; autoimmune enteropathy-related antigen AIE-75
• UniProt Protein Name: Harmonin
• Protein Family: 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

USH1C: Required for normal development and maintenance of cochlear hair cell bundles. 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 hearing. 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). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. Defects in USH1C are the cause of deafness autosomal recessive type 18 (DFNB18). DFNB18 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. 5 isoforms of the human protein are produced by alternative splicing.

Protein type: Cytoskeletal

Chromosomal Location of Human Ortholog: 11p14.3

Cellular Component: stereocilium; photoreceptor outer segment; cytoskeleton; photoreceptor inner segment; apical part of cell; cytoplasm; plasma membrane; synapse; cytosol; brush border

Molecular Function: actin filament binding; protein binding; myosin tail binding; spectrin binding

Biological Process: inner ear morphogenesis; parallel actin filament bundle formation; sensory perception of sound; sensory perception of light stimulus; photoreceptor cell maintenance; auditory receptor cell differentiation; G2/M transition of mitotic cell cycle; equilibrioception

Disease: Usher Syndrome, Type Ic; Usher Syndrome, Type I; Deafness, Autosomal Recessive 18a