Otoferlin (OTOF) ELISA Kits

Bezeichnung:
Otoferlin ELISA Kits (OTOF)
Auf www.antikoerper-online.de finden Sie aktuell 0 Otoferlin (OTOF) ELISA Kits von unterschiedlichen Herstellern. Zusätzlich bieten wir Ihnen Otoferlin Antikörper (18) und und viele weitere Produktgruppen zu diesem Protein an. Insgesamt sind aktuell 19 Otoferlin Produkte verfügbar.
Synonyme:
AUNB1, DFNB6, DFNB9, FER1L2, fj34b10, NSRD9, Otof, si:dkey-181f18.3, wu:fj34b10
list all ELISA KIts Gen GeneID UniProt
Human OTOF OTOF 9381 Q9HC10
Maus OTOF OTOF 83762 Q9ESF1
Ratte OTOF OTOF 84573  

Weitere Synonyme anzeigen

Weitere ELISA Kits für Otoferlin Interaktionspartner

Human Otoferlin (OTOF) Interaktionspartner

  1. The authors conclude that the TRC40 (zeige ASNA1 ELISA Kits) pathway is critical for hearing and propose that otoferlin is an essential substrate of this pathway in hair cells.

  2. In Otof(I515T/I515T) inner hair cells (IHCs), otoferlin levels are diminished by 65%, synaptic vesicles are enlarged, and exocytosis during prolonged stimulation is strongly reduced indicating that otoferlin is critical for the reformation of properly sized and fusion-competent synaptic vesicles.

  3. Our results confirmed that mutations in OTOF gene were a major cause of congenital Auditory neuropathy spectrum disorder (ANSD) in China. Identification of OTOF mutations can facilitate diagnosis, clinical intervention and counseling for congenital ANSD

  4. findings suggest that the mutation found in C2C domain of the OTOF gene is likely to cause deafness in the studied family reflecting the importance of C2 domains of otoferlin in hearing loss

  5. Two mutations in the otoferlin gene, nonsense mutation p.R425X, contributes to a premature stop codon, may result in a truncated polypeptide, which strongly suggests its pathogenicity for auditory neuropathy spectrum disorder. The missense mutation p.L1665P results in a single amino acid substitution in a highly conserved region.

  6. Mutations in RAI1 (zeige DOM3Z ELISA Kits), OTOF, and SLC26A4 (zeige SLC26A4 ELISA Kits) may have roles in nonsyndromic hearing loss in Altaian families in Siberia

  7. Our observation of the discordant audiologic phenotype within the same DFNB9 family is more likely due to the loss of OAE over time rather than a genotype-phenotype correlation.

  8. audiological phenotype associated with different OTOF mutations appears to be consistently different suggesting the presence of a genotype-phenotype correlation

  9. The C2F (zeige EMG1 ELISA Kits) and C2C domains of otoferlin preferentially bind phosphatidylinositol 4,5-bisphosphate (4,5)P2.

  10. We characterize a novel otoferlin mutation discovered in a sibling pair diagnosed with auditory neuropathy spectrum disorder and investigate auditory nerve function through their cochlear implants.

Mouse (Murine) Otoferlin (OTOF) Interaktionspartner

  1. Furthermore, this F-actin mesh network attached to the synaptic ribbons directly influences the efficiency of otoferlin-dependent exocytosis and its sensitivity to intracellular hydrostatic pressure.

  2. Mice that carry a mutation in a calcium binding domain of Otoferlin, the putative calcium sensor at hair cell synapses, have normal distortion product otoacoustic emissions (DPOAEs), but auditory brain stem responses (ABRs) are absent.

  3. a direct role for otoferlin in exocytosis and modulation of calcium-dependent membrane fusion

  4. The analysis of otoferlin knockout mice gave the 1st insights into its function in inner hair cell calcium-dependent exocytosis & type-i vestibular hair cells. Review.

  5. Co-localization studies revealed an overlap of Ergic2 (zeige ERGIC2 ELISA Kits) and Otoferlin signals in IHCs and neurons of cerebral cortical layer I making Ergic2 (zeige ERGIC2 ELISA Kits) the promising binding candidate

  6. Otoferlin deletion does not affect transmitter release at hippocampal synapses.

  7. Otoferlin is a calcium sensor that can directly regulate soluble N-ethyl-maleimide sensitive fusion protein attachment protein receptor-mediated membrane fusion reactions.

  8. Otoferlin underlies highly efficient calcium ion-dependent membrane fusion, a process likely essential to increase the probability and synchrony of vesicle fusion events at the mature inner hair cell ribbon synapse.

  9. Deficient vesicle replenishment underlies the hearing impairment of Otof(Pga/Pga) mice. Otoferlin may confer the high capacity for vesicle re-supply to the inner hair cell synapse.

  10. Otoferlin is essential for a late step of synaptic vesicle exocytosis and may act as the major Ca(2 (zeige CA2 ELISA Kits)+) sensor triggering membrane fusion at the auditory inner hair cell ribbon synapse.

Otoferlin (OTOF) Antigen-Profil

Beschreibung des Gens

Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has 3 C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin, while the long form has 6 C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multiple isoforms have been found for this gene.

Alternative names and synonyms associated with Otoferlin (OTOF)

  • otoferlin (OTOF) Elisa Kit
  • otoferlin (AaeL_AAEL014853) Elisa Kit
  • otoferlin (CpipJ_CPIJ002471) Elisa Kit
  • otoferlin (CpipJ_CPIJ010863) Elisa Kit
  • otoferlin (Smp_163750) Elisa Kit
  • otoferlin (otof) Elisa Kit
  • otoferlin (Otof) Elisa Kit
  • AUNB1 Elisa Kit
  • DFNB6 Elisa Kit
  • DFNB9 Elisa Kit
  • FER1L2 Elisa Kit
  • fj34b10 Elisa Kit
  • NSRD9 Elisa Kit
  • Otof Elisa Kit
  • si:dkey-181f18.3 Elisa Kit
  • wu:fj34b10 Elisa Kit

Bezeichner auf Proteinebene für Otoferlin (OTOF) ELISA Kits

otoferlin , fer-1-like protein 2 , otoferlin transcript variant 46-48

GENE ID SPEZIES
422007 Gallus gallus
607961 Canis lupus familiaris
617299 Bos taurus
5565414 Aedes aegypti
6033654 Culex quinquefasciatus
6043387 Culex quinquefasciatus
8355726 Schistosoma mansoni
100125064 Xenopus (Silurana) tropicalis
100329046 Saccoglossus kowalevskii
100479400 Ailuropoda melanoleuca
100596202 Nomascus leucogenys
9381 Homo sapiens
83762 Mus musculus
84573 Rattus norvegicus
557476 Danio rerio
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