Browse our DFNB31 (DFNB31) ELISA Kits

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Deafness, Autosomal Recessive 31 ELISA Kits (DFNB31)
On are 3 Deafness, Autosomal Recessive 31 (DFNB31) ELISA Kits from 1 different suppliers available. Additionally we are shipping DFNB31 Antibodies (34) and and many more products for this protein. A total of 40 DFNB31 products are currently listed.
1110035G07Rik, AW122018, AW742671, C430046P22Rik, Cip98, Dfnb31, PDZD7B, USH2D, Whrn, wi
list all ELISA KIts Gene Name GeneID UniProt
DFNB31 25861 Q9P202
DFNB31 313255 Q810W9
DFNB31 73750 Q80VW5

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DFNB31 (DFNB31) ELISA Kits by Reactivity

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More ELISA Kits for DFNB31 Interaction Partners

Human Deafness, Autosomal Recessive 31 (DFNB31) interaction partners

  1. 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 (show USH2A ELISA Kits)/whirlin 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 (show USH2A ELISA Kits) proteins function together in higher order protein complexes.

  2. Data indicate that that CIB2 localizes to stereocilia and interacts with the USH proteins myosin VIIa (show MYO7A ELISA Kits) and whirlin, suggesting CIB2 is a Ca2 (show CA2 ELISA Kits)+-buffering protein essential for calcium homeostasis in the mechanosensory stereocilia of inner ear hair cells.

  3. In Spain, USH2A (show USH2A ELISA Kits) and GPR98 are responsible for 95.8% and 5.2% of Usher syndrome 2 mutated cases, respectively. DFNB31 plays a minor role in the Spanish population. There was a group of patients in whom no mutation was found.

  4. Mutation found in USH2A (show USH2A ELISA Kits), GPR98, or DFNB31 account for the vast majority of USH2 (show USH2A ELISA Kits) patients and their analysis provide a robust pathway for routine molecular diagnosis.

  5. A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.

  6. DFNB31 is not a major cause of Usher syndrome.

  7. This paper describes a PDZ domain protein (show INADL ELISA Kits) and its role in synaptic transmission in the related rat gene.

  8. This paper concludes that this protein plays a role in photoreceptor and hair cell synapse organization in the related rat gene.

  9. Defects in whirlin, a PDZ domain (show INADL ELISA Kits) molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31.

  10. analysis of a novel genetic subtype for Usher syndrome, USH2D, which is caused by mutations in whirlin

Mouse (Murine) Deafness, Autosomal Recessive 31 (DFNB31) interaction partners

  1. the major long (WHRN-L) and short (WHRN-S) isoforms of WHRN have distinct localizations within stereocilia and also across hair cell types.

  2. vestibular dysfunction in Dfnb31 mutant mice

  3. disruption of distinct whirlin isoforms by Dfnb31 mutations leads to a variety of phenotype configurations

  4. findings indicate that Whirlin and TRPV1 (show TRPV1 ELISA Kits) are associated in a subset of nociceptors and that TRPV1 (show TRPV1 ELISA Kits) protein stability is increased through the interaction with the cytoskeletal scaffold protein (show HOMER1 ELISA Kits).

  5. This study showed here that Whirlin/Deafness autosomal recessive 31 (DFNB31), a PDZ (show INADL ELISA Kits)-scaffold protein (show HOMER1 ELISA Kits) involved in vestibular and auditory hair cell transduction, is also expressed by proprioceptive sensory neurons (pSNs) in dorsal root ganglia in mice.

  6. Whrn acts as a cytoskeletal linker to ensure proper paranodal compaction and stabilization of the axonal cytoskeleton in myelinated axons.

  7. It was concluded that MyoXVa, whirlin, and Eps8 are integral components of the stereocilia tip complex, where Eps8 is a central actin-regulatory element for elongation of the stereocilia actin core.

  8. Whirlin expression is a critical and dynamic organizer for stereocilia elongation and actin polymerization.

  9. myosin-XVa is a motor protein (show MYO7A ELISA Kits) that, in vivo, interacts with the third PDZ domain (show INADL ELISA Kits) of whirlin through its carboxy-terminal PDZ (show INADL ELISA Kits)-ligand. Myosin-XVa then delivers whirlin to the tips of stereocilia.

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

DFNB31 Antigen Profile

Antigen Summary

This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromic deafness and Usher Syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms.

Alternative names and synonyms associated with DFNB31

  • deafness, autosomal recessive 31 (DFNB31) Elisa Kit
  • deafness, autosomal recessive 31 (dfnb31) Elisa Kit
  • deafness, autosomal recessive 31 (Dfnb31) Elisa Kit
  • whirlin (Whrn) Elisa Kit
  • 1110035G07Rik Elisa Kit
  • AW122018 Elisa Kit
  • AW742671 Elisa Kit
  • C430046P22Rik Elisa Kit
  • Cip98 Elisa Kit
  • Dfnb31 Elisa Kit
  • PDZD7B Elisa Kit
  • USH2D Elisa Kit
  • Whrn Elisa Kit
  • wi Elisa Kit

Protein level used designations for DFNB31

deafness, autosomal recessive 31 , CASK-interacting protein CIP98 , whirlin-like , autosomal recessive deafness type 31 protein , whirlin , whirler

429472 Gallus gallus
612588 Canis lupus familiaris
708051 Macaca mulatta
742628 Pan troglodytes
100012270 Monodelphis domestica
100449304 Pongo abelii
100355083 Oryctolagus cuniculus
100539935 Meleagris gallopavo
100555508 Anolis carolinensis
25861 Homo sapiens
313255 Rattus norvegicus
73750 Mus musculus
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