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- Table of Contents
Facts about Usherin.
Human | |
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Gene Name: | USH2A |
Uniprot: | O75445 |
Entrez: | 7399 |
Belongs to: |
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No superfamily |
Usherin
Mass (kDA):
575.6 kDA
Human | |
---|---|
Location: | 1q41 |
Sequence: | 1; NC_000001.11 (215622891..216423448, complement) |
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.
Cell projection, stereocilium membrane; Single-pass type I membrane protein. Component of the interstereocilia ankle links in the inner ear sensory cells. In photoreceptors, localizes at a plasma membrane microdomain in the apical inner segment taht surrounds the connecting cilia called periciliary membrane complex.; [Isoform 2]: Secreted.
USH2A, which is also known by its USH2A mark, is a gene that can be found in bacteria or other organisms. The gene is expressed in many types of bacteria, including Alicyclobacillus thiodismutans ATCC 49025 Desulfonum trichotomans strain MLF-1 Opitutaceaebacterium TAV5, Desulfonum biwidismutans strain MLF-1 and Bacillus thermoamylovorans variant B4166. These organisms are often found as food or environmental samples.
The USH2A marker to Listeria bacteria measures the antigenicity a bacterial strain. The marker has many applications in pathophysiological, diagnostic and veterinary research. It can detect serious illnesses caused by Listeria bacteria. It can be used as a diagnostic tool, including for antimicrobial resistance testing and food security.
This marker identifies the presence of muramyl-coenzyme A (MurA) protein. This protein is important for cell separation and autolysis. It is found in bosterbio.
The USH2A genome is located within FSL M6-0635. Its genome sequence is almost identical to the targetRNA. Its sequence matches the downstream RNA 75%. The sequence of the upstream sequence is 75% identical to the downstream RNA. It has 98% or 99% sequence similarity.
USH2A can also serve as a marker to detect other bacterial strains. For example, the USH2A marker can detect Listeria bacterium FSL M6-0635 (SEQ ID NO. 1088). This allows it to identify other Listeria types, such as Listeria Sp., and other bacteria responsible in food safety.
The USH2A gene plays a role in many biological processes. It contains a transposase domain, an integrase domain, a DNA hydroxylmethylase domain, a transcription-regulatory protein, and a RNA-binding enzyme recruiter. Several other functional domains can be detected by USH2A.
You can modify a gene to alter its effect. By mutating the USH2A gene, the effector protein will not be able to directly cleave a DNA or RNA strand at the target locus. The USH2A is a very relevant marker for FSLM6-0635 in many instances.
A recent study has shown that the antibody targets the USH2A exon 13. Scientists were able, using this marker to predict the effect of exon13 skipping in vivo as well as in vitro. This was the first to identify USH2A's target region, which is the exon13 gene. It also revealed that USH2A was expressed in most cells in the body.
The USH2A genes encode a protein called usherin. It's anchored to cell membranes and is a part of basement membranes. These membranes can also be found in the retina and inner ear. Mutations in USH2A cause retinitis, a deafness related disorder. Researchers wanted to identify USH2A genetic mutations in a Chinese population of patients with small retinitis and Usher syndrome.
Normal retina function and cochlea function require one normal allele of the USH2A gene. In mice, the heterozygous allele c.1256G–T appears to have no pathological effect. You can also use c.2299delG-corrected IPSC to test therapeutic approaches or disease phenotypes.
The biggest use of USH2A genes is in genetic testing for clinical cases. USH2A mutations can be used for rare genetic conditions like RP and Usher syndrome. The mutations in USH2A gene have been found in people from all walks of life. This marker can help identify patients with rare diseases and help develop personalized treatment programs for them. There are many clinical benefits to USH2A.
The AON treatment in mice of exon 13 mutants resulted in long-lasting in vivo effects in the retina. After a single IVT, mice models showed prolonged AON activity. Exon 13 skipping could lead to a cure for USH2A associated retinal degeneration. This proof of concept has been applied in the clinic.
The USH2A gene is the product of two genes - USh2 and USH2A. The USH2A proteins share structural similarities and have a large additional cell domain, membrane spanning and a PDZ-binding PDZ C terminus. Both variants of USH2A are compound heterozygous. Researchers used the USH2A Gene to study eight families, and 21 with USh2.
Steven Boster created his first product in 1993. This earned him the nickname "he that converts science in a lavatory". He has developed hundreds of primary antibodies and developed a proprietary ELISA platform, PicoKine(tm), to deliver high-sensitivity ELISA kits. This unique platform is proprietary and uses trade secret technology to deliver high-quality ELISA kit that are sensitive to USH2A.
This USH2A marker can detect bacteria strains such as the Alicyclobacillus acidstris ATCC 49025 and Desulfonum thiodismutans MLF-1, Opitutaceaebacterium TAV5, Bacillus thermoamylovorans B4166. These strains are often used for bacterial identification because they are common sources of food contamination.
PMID: 9624053 by Eudy J.D., et al. Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.
PMID: 10729113 by Weston M.D., et al. Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.