Rabbit anti-Human Usherin Polyclonal Antibody | anti-USH2A antibody

Usherin Antibody FITC-Conjugated

Cat. Num. AAA5400219

• Gene Names: USH2A; US2; RP39; USH2; dJ1111A8.1
• Reactivity: Human
• Applications: ELISA, Immunocytochemistry, Immunofluorescence, Immunohistochemistry, Immunoprecipitation, Western Blot
• Synonyms: Usherin; Polyclonal Antibody; Usherin Antibody FITC-Conjugated; dJ1111A8.1; US1; USH1A; Usher syndrome type Ia protein; Usher syndrome type-1A protein; Usherin antibody; anti-USH2A antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Form/Format: FITC-Conjugated
• Concentration: 0.62 ug/ul in antibody stabilization buffer (varies by lot)
• Sequence Length: 1546

• Applicable Applications for anti-USH2A antibody: Confocal Microscopy (CM), ELISA (EIA), Immunocytochemistry (ICC), Immunofluorescence (IF), Immunohistochemistry (IHC), Immunoprecipitation (IP), Western Blot (WB)
• Application Notes: Confocal Microscopy||1:250; Dot Blot: 1:4,000; ELISA: 1:4,000; Immunocytochemistry: 1:250; Immunofluorescence: 1:250; Immunohistochemistry: 1:250; Immunoprecipitation: 1:200; Western Blot: 1:500
• Immunogen: Synthetic peptide taken within amino acid region 1495-1545 on human Usherin isoform A protein.
• Expression: Present in the basement membrane of many, but not all tissues. Expressed in retina, cochlea, small and large intestine, pancreas, bladder, prostate, esophagus, trachea, thymus, salivary glands, placenta, ovary, fallopian tube, uterus and testis.
• Determinant: C-epitope
• Molecular Function: collagen binding, myosin binding
• Structure: Interacts with collagen IV and fibronectin via its laminin EGF-like domains. Interaction with collagen may be required for stable integration into the basement membrane. Interacts with USH1C and WHRN. Interacts with NINL. Interacts with PDZD7
• Subcellular Location: Cell projection degree stereocilium membrane; Single-pass type I membrane protein
• Preparation and Storage: -20 degree C for long term storage

Related Product Information for anti-USH2A antibody

FITC-Conjugated Usherin isoform A Antibody C-epitope
Involved in hearing and vision.

NCBI and Uniprot Product Information

• NCBI GI #: 219842259
• NCBI GeneID: 7399
• NCBI Accession #: NP_009054.5
• NCBI GenBank Nucleotide #: NM_007123.5
• UniProt Accession #: O75445; Q5VVM9; Q6S362; Q9NS27
• Molecular Weight: 578,275 Da
• NCBI Official Full Name: usherin isoform A
• NCBI Official Synonym Full Names: usherin
• NCBI Official Symbol: USH2A
• NCBI Official Synonym Symbols: US2; RP39; USH2; dJ1111A8.1
• NCBI Protein Information: usherin
• UniProt Protein Name: Usherin
• Protein Family: Usherin
• UniProt Gene Name: USH2A
• UniProt Entry Name: USH2A_HUMAN

NCBI Description

This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

Uniprot Description

USH2A: Involved in hearing and vision. Defects in USH2A are the cause of Usher syndrome type 2A (USH2A). 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). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses. Defects in USH2A are the cause of retinitis pigmentosa type 39 (RP39). RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP39 inheritance is autosomal recessive. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Motility/polarity/chemotaxis; Cell adhesion

Chromosomal Location of Human Ortholog: 1q41

Cellular Component: apical plasma membrane; basement membrane; cytoplasm; integral to membrane; photoreceptor connecting cilium; photoreceptor inner segment; stereocilium bundle

Molecular Function: collagen binding; myosin binding; protein binding; protein homodimerization activity

Biological Process: establishment of protein localization; hair cell differentiation; inner ear receptor cell differentiation; maintenance of organ identity; photoreceptor cell maintenance; response to stimulus; sensory perception of light stimulus; sensory perception of sound; visual perception

Disease: Retinitis Pigmentosa 39; Usher Syndrome, Type Iia