• Thumbnail for Otoferlin
    Otoferlin is a protein that in humans is encoded by the OTOF gene. It is involved in vesicle membrane fusion, and mutations in the OTOF gene are associated...
    11 KB (1,319 words) - 01:02, 28 October 2024
  • DB-OTO is an experimental gene therapy for otoferlin-related hearing loss developed by Regeneron Pharmaceuticals. It is delivered via adeno-associated...
    2 KB (249 words) - 11:06, 9 May 2024
  • Thumbnail for Chromosome 2
    Nuclear receptor-binding protein 1 ODC1: Ornithine decarboxylase OTOF: otoferlin PAIP2B: Poly(a) binding protein interacting protein 2b PARK3 encoding...
    40 KB (2,534 words) - 05:56, 28 July 2024
  • AAVAnc80-hOTOF is an experimental gene therapy for otoferlin gene-mediated hearing loss. Jiang, Luoying; Wang, Daqi; He, Yingzi; Shu, Yilai (April 2023)...
    1 KB (105 words) - 03:58, 9 May 2024
  • Thumbnail for Ferlins
    each has a unique name and they correspond to dysferlin, myoferlin, and otoferlin accordingly. The first member of ferlin protein family, fer-1, was discovered...
    26 KB (3,105 words) - 07:10, 2 November 2024
  • expression of otoferlin, a ribbon synapse associated protein, impairs exocytosis of ribbon-bound vesicles in auditory inner hair cells. Otoferlin displays...
    29 KB (3,551 words) - 22:07, 2 January 2024
  • Dozens of additional genes for nonsyndromic deafness have been identified. Otoferlin gene defects are the cause of around 1% to  3% of cases of inborn deafness...
    38 KB (4,693 words) - 05:18, 15 December 2024
  • Thumbnail for RAB8B
    "Rab8b GTPase, a protein transport regulator, is an interacting partner of otoferlin, defective in a human autosomal recessive deafness form". Hum Mol Genet...
    3 KB (424 words) - 21:59, 18 August 2023
  • Thumbnail for FAM166C
    in this gene can lead to ciliary dyskinesia. OTOF encodes the protein otoferlin which has been suggested to be involved in vesicle membrane fusion. Mutations...
    18 KB (1,605 words) - 22:35, 18 August 2024
  • Thumbnail for GPR113
    GPR113 gene has two neighbors on either side on the negative strand: OTOF otoferlin preceding and HADHA hydroxyacyl-CoA following. Directly opposite the GPR113...
    9 KB (884 words) - 05:06, 6 September 2024
  • Thumbnail for ERGIC2
    proteins, such as beta-amyloid, protein elongation factor 1alpha, and otoferlin. Therefore, it may play an important role in cellular functions besides...
    7 KB (888 words) - 12:17, 1 August 2023