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Usher Syndrome 2A (Autosomal Recessive, Mild) (USH2A) ELISA Kits

USH2A encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. Additionally we are shipping USH2A Antibodies (12) and and many more products for this protein.

list all ELISA KIts Gene Name GeneID UniProt
Anti-Human USH2A USH2A 7399 O75445
Anti-Mouse USH2A USH2A 22283 Q2QI47
Anti-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. USH2A gene sequencing identifies several new deep intronic mutations responsible for Usher syndrome type 2A.

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

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

  4. 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.

  5. 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.

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

  7. The c.8559-2A>G mutation in the USH2A gene is associated the Usher syndrome in a Chinese family.

  8. The novel heterozygous mutations c.8272G>T and c.12376-12378ACT>TAA within the USH2A gene are associated with with Usher syndrome type II.

  9. Novel deletions have been found involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa.

  10. Herein, we describe 2 siblings harboring the same USH2A mutations (c.[1036A>C];[13316C>T], p.[Asn346His];[Thr4439Ile]) with very different ocular and electrophysiological phenotypes.

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.

Gene names and symbols associated with USH2A

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

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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