protein

Usherin Antibody Antigenic Blocking Peptide

MBS544643

0.25 mg

250 USD

Blocking Peptide

Usherin Antibody Antigenic Blocking Peptide

[Usherin]

[dJ1111A8.1; US1; USH1A; Usher syndrome type Ia protein; Usher syndrome type-1A protein; Usherin antibody]

[usherin isoform A; Usherin; usherin; usherin; Usher syndrome type IIa protein; Usher syndrome type-2A protein]

[USH2A; USH2A; US2; RP39; USH2; dJ1111A8.1]

USH2A_HUMAN

1546

Antigenic Blocking Peptide

Quantity: 250 ug; Volume: 100 ul

-20 degree C for long term storage

Immunocompetition, Immunodepletion

Confocal Microscopy 1:250. Immunocytochemistry: 1:250. Immunofluorescence: 1:250. Immunohistochemistry: 1:250. Western Blot: 1:500

Immunogen: Synthetic Peptide taken within amino acid region 150-180 on 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: N-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

Antigenic Blocking Peptide Usherin isoform A Antibody N-epitope. Involved in hearing and vision.

219842259

NP_009054.5

NM_007123.5

O75445

578,275 Da

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]

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; Cell adhesion; Motility/polarity/chemotaxis. 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

0.25 mg

250 USD