Human Usherin, USH2A ELISA Kit | USH2A elisa kit

Human Usherin, USH2A ELISA Kit

Cat. Num. AAA2602743

• Gene Names: USH2A; US2; RP39; USH2; dJ1111A8.1
• Reactivity: Human
• Synonyms: Usherin; USH2A; Human Usherin; USH2A ELISA Kit; USH2A elisa kit

• Reactivity: Human
• Specificity: No cross-reaction with other factors.

• Samples: Human Serum, Plasma Or Cell Culture Supernatant And Organizations In The Natural And Recombinant Urea Concentration
• Assay Type: Sandwich
• Detection Range: 200 nmol/L-3.12 nmol/L
• Sensitivity: 0.6 nmol/L.
• Intra-assay Precision: <= 8%
• Inter-assay Precision: <= 12%
• Preparation and Storage: Store all reagents at 2-8 degree C.

Typical Testing Data/Standard Curve (for reference only)

Related Product Information for USH2A elisa kit

Principle of the Assay: This experiment use double-sandwich elisa technique and the ELISA Kit provided is typical. The pre-coated antibody is Human Urea monoclonal antibody and the detecting antibody is polyclonal antibody with biotin labeled. Samples and biotin labeling antibody are added into ELISA plate wells and washed out with PBS or TBS. Then Avidin-peroxidase conjugates are added to ELISA wells in order; Use TMB substrate for coloring after reactant thoroughly washed out by PBS or TBS. TMB turns into blue in peroxidase catalytic and finally turns into yellow under the action of acid. The color depth and the testing factors in samples are positively correlated.

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: 575,600 Da
• NCBI Official Full Name: usherin isoform A
• NCBI Official Synonym Full Names: Usher syndrome 2A (autosomal recessive, mild)
• NCBI Official Symbol: USH2A
• NCBI Official Synonym Symbols: US2; RP39; USH2; dJ1111A8.1
• NCBI Protein Information: usherin; usher syndrome type-2A protein; usher syndrome type IIa protein
• 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: Motility/polarity/chemotaxis; Cell adhesion; Membrane protein, integral

Chromosomal Location of Human Ortholog: 1q41

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

Molecular Function: collagen binding; protein binding; myosin binding

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

Disease: Retinitis Pigmentosa 39; Usher Syndrome, Type Iia