| Host: | Rabbit |
| Applications: | WB/ELISA |
| Reactivity: | Human |
| Note: | STRICTLY FOR FURTHER SCIENTIFIC RESEARCH USE ONLY (RUO). MUST NOT TO BE USED IN DIAGNOSTIC OR THERAPEUTIC APPLICATIONS. |
| Clonality : | Polyclonal |
| Conjugation: | Unconjugated |
| Isotype: | IgG |
| Formulation: | PBS with 0.01% Thimerosal, 50% Glycerol, pH 7.3. |
| Purification: | Affinity purification |
| Concentration: | Lot specific |
| Dilution Range: | WB:1:500-1:2000ELISA:Recommended starting concentration is 1 Mu g/mL. Please optimize the concentration based on your specific assay requirements. |
| Gene Symbol: | USH2A |
| Gene ID: | 7399 |
| Uniprot ID: | USH2A_HUMAN |
| Immunogen Region: | 390-520 aa |
| Specificity: | Recombinant fusion protein containing a sequence corresponding to amino acids 390-520 of human USH2A (NP_996816.2). |
| Immunogen Sequence: | FSPQPTEIRIQRKKENSLDW EDWQYFARNCGAFGMKNNGD LEKPDSVNCLQLSNFTPYSR GNVTFSILTPGPNYRPGYNN FYNTPSLQEFVKATQIRFHF HGQYYTTETAVNLRHRYYAV DEITISGRCQC |
| Tissue Specificity | 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. Absent in many other tissues such as heart, lung, liver, kidney and brain. In the retina, it is present in the basement membranes in the Bruch's layer choroid capillary basement membranes, where it localizes just beneath the retinal pigment epithelial cells (at protein level). Weakly expressed. Isoform 2 is expressed in fetal eye, cochlea and heart, and at very low level in brain, CNS, intestine, skeleton, tongue, kidney and lung. Isoform 2 is not expressed in stomach and liver. In adult tissues, isoform 2 is expressed in neural retina and testis, and at low level in brain, heart, kidney and liver. Isoform 1 displays a similar pattern of expression but is expressed at very low level in fetal cochlea. |
| Function | Involved in hearing and vision as member of the USH2 complex. In the inner ear, required for the maintenance of the hair bundle ankle formation, which connects growing stereocilia in developing cochlear hair cells. In retina photoreceptors, the USH2 complex is required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport. |
| Protein Name | UsherinUsher Syndrome Type Iia ProteinUsher Syndrome Type-2a Protein |
| Cellular Localisation | Cell ProjectionStereocilium MembraneSingle-Pass Type I Membrane ProteinComponent Of The Interstereocilia Ankle Links In The Inner Ear Sensory CellsIn PhotoreceptorsLocalizes At A Plasma Membrane Microdomain In The Apical Inner Segment That Surrounds The Connecting Cilia Called Periciliary Membrane ComplexIsoform 2: Secreted |
| Alternative Antibody Names | Anti-Usherin antibodyAnti-Usher Syndrome Type Iia Protein antibodyAnti-Usher Syndrome Type-2a Protein antibodyAnti-USH2A antibody |
Information sourced from Uniprot.org
