Browse our USH2A (USH2A) ELISA Kits

Full name:
Usher Syndrome 2A (Autosomal Recessive, Mild) ELISA Kits (USH2A)
On www.antibodies-online.com are 0 Usher Syndrome 2A (Autosomal Recessive, Mild) (USH2A) ELISA Kits from different suppliers available. Additionally we are shipping USH2A Antibodies (16) and and many more products for this protein. A total of 21 USH2A products are currently listed.
Synonyms:
A930011D15Rik, A930037M10Rik, dJ1111A8.1, Gm676, Gm983, Mush2a, RGD1560269, RP39, si:ch211-279e11.1, US2, USH2, Usherin
list all ELISA KIts Gene Name GeneID UniProt
Human USH2A USH2A 7399 O75445
Mouse USH2A USH2A 22283 Q2QI47
Rat USH2A USH2A 289369 Q8K3K1

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More ELISA Kits for USH2A Interaction Partners

Human Usher Syndrome 2A (Autosomal Recessive, Mild) (USH2A) interaction partners

  1. We identified four novel CNVs in three different genes (one duplication in USH2A gene, two duplications in CEP290 (show CEP290 ELISA Kits) gene, and one duplication in RIMS2 (show RIMS2 ELISA Kits) gene) in total four families, at a detection rate of 8% (4/50).

  2. Most patients with USH2A-associated RP have severe visual impairment by age 50. However, those with Usher syndrome type IIa have an earlier decline of visual function and a higher cumulative risk of visual impairment than those without nonsyndromic RP.

  3. Protein-protein interaction assays and co-expression of complex partners reveal that pathogenic mutations in USH1G (show USH1G ELISA Kits) severely affect formation of the SANS (show USH1G ELISA Kits)/ush2a/whirlin (show DFNB31 ELISA Kits) complex. Translational read-through drug treatment, targeting the c.728C > A (p.S243X) nonsense mutation, restored SANS (show USH1G ELISA Kits) scaffold function. We conclude that USH1 and USH2 proteins function together in higher order protein complexes.

  4. seven out of 27 families, displaying mutations in the ABCA4 (show ABCA4 ELISA Kits), RP1 (show STK19 ELISA Kits), RP2 and USH2A genes, could be genetically or clinically reclassified. These results demonstrate the potential of our panel-based NGS strategy in RP diagnosis

  5. USH2A gene sequencing identifies several new deep intronic mutations responsible for Usher syndrome type 2A.

  6. Usher syndrome 2 is caused by USH2A exon deletions in a small fraction of danish patients.

  7. One novel and two known mutations in the USH2A gene were identified, and were further confirmed by direct sequencing and cosegregation analysis.

  8. The presence of at least one 'retinal disease-specific' USH2A allele in a patient with USH2A-related disease results in the preservation of normal hearing.

  9. Ten variants in the MYO7A (show MYO7A ELISA Kits) gene and 34 variants in the USH2A gene were detected in Italian patients with Usher syndrome at a high detection rate.

  10. Six novel and one recurrent homozygous USH2A mutations were identified with their genotype-phenotype correlations annotated.

Mouse (Murine) Usher Syndrome 2A (Autosomal Recessive, Mild) (USH2A) interaction partners

  1. Conservation of usherin is seen at the nucleotide and amino acid level when comparing the mouse and human gene sequences.

  2. Binding to fibronectin (show FN1 ELISA Kits) occurs at the LE domain of usherin.

  3. In mouse inner ears usherin is present at the base of the differentiating stereocilia, which make up the mechanosensitive hair bundles receptive to sound

  4. Whrn connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1.

  5. usherin in photoreceptors is tethered via its C terminus to the plasma membrane and its large extracellular domain projects into the periciliary matrix, where they may interact with the connecting cilium to fulfill important structural or signaling roles

USH2A Antigen Profile

Antigen Summary

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.

Alternative names and synonyms associated with USH2A

  • Usher syndrome 2A (autosomal recessive, mild) (USH2A) Elisa Kit
  • Usher syndrome 2A (autosomal recessive, mild) (ush2a) Elisa Kit
  • Usher syndrome 2A (autosomal recessive, mild) (Ush2a) Elisa Kit
  • A930011D15Rik Elisa Kit
  • A930037M10Rik Elisa Kit
  • dJ1111A8.1 Elisa Kit
  • Gm676 Elisa Kit
  • Gm983 Elisa Kit
  • Mush2a Elisa Kit
  • RGD1560269 Elisa Kit
  • RP39 Elisa Kit
  • si:ch211-279e11.1 Elisa Kit
  • US2 Elisa Kit
  • USH2 Elisa Kit
  • Usherin Elisa Kit

Protein level used designations for USH2A

Usher syndrome 2A (autosomal recessive, mild) , usherin , novel Fibronectin type III domain containing protein , usherin-like , Usherin-like , usher syndrome type IIa protein , usher syndrome type-2A protein , Usher syndrome 2A (autosomal recessive, mild) homolog , usher syndrome type IIa protein homolog , usher syndrome type-2A protein homolog , Usher syndrome 2A homolog

GENE ID SPECIES
421358 Gallus gallus
457736 Pan troglodytes
488593 Canis lupus familiaris
568982 Danio rerio
588674 Strongylocentrotus purpuratus
708278 Macaca mulatta
100023629 Monodelphis domestica
100050607 Equus caballus
100176806 Ciona intestinalis
100296635 Bos taurus
100375904 Saccoglossus kowalevskii
100398552 Callithrix jacchus
100466108 Ailuropoda melanoleuca
100487687 Xenopus (Silurana) tropicalis
100513222 Sus scrofa
100600825 Nomascus leucogenys
7399 Homo sapiens
22283 Mus musculus
289369 Rattus norvegicus
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