Rabbit anti-Human, Mouse USH1C Polyclonal Antibody | anti-USH1C antibody

USH1C, NT (USH1C, AIE75, Harmonin, 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) (PE)

Cat. Num. AAA6361794

• 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, Mouse
• Applications: Western Blot
• Purity: Purified by Protein A Affinity Chromatography.
• Synonyms: USH1C; Polyclonal Antibody; NT (USH1C; AIE75; Harmonin; 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) (PE); Usher syndrome type-1C protein; anti-USH1C antibody

• Host: Rabbit
• Reactivity: Human, Mouse
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: Purified by Protein A Affinity Chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with R-Phycoerythrin (PE).

• Applicable Applications for anti-USH1C antibody: Western Blot (WB), FLISA
• Application Notes: WB: 1:100-500; FLISA: 1:1,000; Applications are based on unconjugated antibody.
• Immunogen: USH1C antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 1-30 amino acids from the N-terminal region of human USH1C.
• Conjugate: PE
• Note: Preservative Free
• Special Handling: Light sensitive
• Preparation and Storage: Store product at 4 degree C in the dark. DO NOT FREEZE! Stable at 4 degree C for 12 months after receipt as an undiluted liquid. Dilute required amount only prior to immediate use. Further dilutions can be made in assay buffer. Caution: PE conjugates are sensitive to light. For maximum recovery of product, centrifuge the original vial prior to removing the cap.

Western Blot (WB)

(USH1C Antibody (N-term) western blot analysis in K562 cell line lysates (35ug/lane).This demonstrates the USH1C antibody detected the USH1C protein (arrow).)

Western Blot (WB)

(USH1C Antibody (N-term) western blot analysis in mouse NIH-3T3 cell line lysates (35ug/lane).This demonstrates the USH1C antibody detected the USH1C protein (arrow).)

Related Product Information for anti-USH1C antibody

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.

Product Categories/Family for anti-USH1C antibody

Antibodies; Autoimmune

References

Rose, J.E., et al. Mol. Med. 16 (7-8), 247-253 (2010): Yan, J., et al. Proc. Natl. Acad. Sci. U.S.A. 107(9):4040-4045(2010). Jaijo, T., et al. Invest. Ophthalmol. Vis. Sci. 51(3):1311-1317(2010). Pan, L., et al. Proc. Natl. Acad. Sci. U.S.A. 106(14):5575-5580(2009). Baux, D., et al. Hum. Mutat. 29 (8), E76-E87 (2008).

NCBI and Uniprot Product Information

• NCBI GI #: 71480164
• NCBI GeneID: 10083
• NCBI Accession #: NP_005700.2; NP_710142.1
• NCBI GenBank Nucleotide #: NM_005709.3
• UniProt Accession #: Q9Y6N9; Q7RTU8; Q96B29; Q9UM04; Q9UM17; Q9UPC3; A8K423
• Molecular Weight: 101,344 Da
• NCBI Official Full Name: harmonin isoform a
• 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
• 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