Target intelligence / Profile preview

Otogelin (OTOG)

Target
OTOG
Molecular classification
Other (large secreted glycoprotein), Not a receptor, transporter, enzyme, or ion channel
01

Overview

Otogelin is a large secreted glycoprotein integral to the extracellular membranes of the inner ear, particularly the tectorial membrane[2][3]. It has a structure similar to, but distinct from, epithelial mucins, including several structural domains (e.g., von Willebrand factor domains, cysteine-rich C8 domains) and forms part of the fibrillar networks that ensure the structural integrity of acellular inner ear matrices[1][3]. Otogelin stabilizes and anchors the otoconial membranes and cupulae to the auditory and vestibular neuroepithelia, playing an essential role in hearing and balance. Mutations in the OTOG gene cause autosomal-recessive moderate-to-severe non-syndromic hearing loss and have been associated with variable clinical phenotypes, including occasional vestibular dysfunction and, in specific populations, familial forms of Meniere disease[2]. Otogelin is not a classic therapeutic target such as a receptor, enzyme, or ion channel, and there are no drugs known to act directly on otogelin[2][3].

Other names
OTGNDFNB18BMLEMPFLJ46346mlempotogelinOTOG
02

Biological functions

Structural maintenance of acellular membranes in the inner earFibrillar network organizationAnchoring of otoconial membranes and cupulae to neuroepitheliaMechanical stabilization of the tectorial membrane for normal mechano-electrical transduction in auditory hair cells
03

Disease associations

Genetic forms of non-syndromic hearing loss (autosomal recessive, DFNB18B)Familial Meniere disease (in some populations)
04

Biomarkers

Mutations in OTOG can serve as biomarkers for autosomal-recessive hearing loss

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