OTOG | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | OTOG , DFNB18B, MLEMP, OTGN, otogelin | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 604487 MGI: 1202064 HomoloGene: 8421 GeneCards: OTOG | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Otogelin is a protein that in humans is encoded by the OTOG gene. [5]
The protein encoded by this gene is a component of the acellular membranes of the inner ear. Disruption of the orthologous mouse gene shows that it plays a role in auditory and vestibular functions. It is involved in fibrillar network organization, the anchoring of otoconial membranes and cupulae to the neuroepithelia, and likely in sound stimulation resistance. Mutations in this gene cause autosomal recessive nonsyndromic deafness, type 18B. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014].
If people don't have otogelin or otogelin-like they are born with mild or moderate deafness.
Gap junction beta-2 protein (GJB2), also known as connexin 26 (Cx26) — is a protein that in humans is encoded by the GJB2 gene.
Cadherin-23 is a protein that in humans is encoded by the CDH23 gene.
Transmembrane protease, serine 3 is an enzyme that in humans is encoded by the TMPRSS3 gene.
TRIO and F-actin-binding protein is a protein that in humans is encoded by the TRIOBP gene.
Claudin-14 is a protein that in humans is encoded by the CLDN14 gene. It belongs to a related family of proteins called claudins.
Alpha-tectorin is a protein that in humans is encoded by the TECTA gene.
Eyes absent homolog 4 is a protein that in humans is encoded by the EYA4 gene.
Otoferlin is a protein that in humans is encoded by the OTOF gene.
Transmembrane channel-like protein 1 is a protein that in humans is encoded by the TMC1 gene. TMC1 contains six transmembrane domains with both the C and N termini on the endoplasmic side of the membrane, as well as a large loop between domains 4 and 5. This topology is similar to that of transient receptor potential channels (TRPs), a family of proteins involved in the perception of senses such as temperature, taste, pressure, and vision. TMC1 has been located in the post-natal mouse cochlea, and knockouts for TMC1 and TMC2 result in both auditory and vestibular deficits indicating TMC1 is a molecular part of auditory transduction.
Stereocilin is a protein that in humans is encoded by the STRC gene.
Myosin-XV is a protein that in humans is encoded by the MYO15A gene.
Espin, also known as autosomal recessive deafness type 36 protein or ectoplasmic specialization protein, is a protein that in humans is encoded by the ESPN gene. Espin is a microfilament binding protein.
Glutaredoxin domain-containing cysteine-rich protein 1 is a protein that in humans is encoded by the GRXCR1 gene.
Synaptotagmin XIV is a protein that in humans is encoded by the SYT14 gene.
Lipoxygenase homology domains 1 is a protein in humans that is encoded by the LOXHD1 gene.
Leucine rich transmembrane and O-methyltransferase domain containing is a protein that in humans is encoded by the LRTOMT gene.
Trafficking protein particle complex 9 is a protein that in humans is encoded by the TRAPPC9 gene.
SCAPER is a gene located on the long arm of chromosome 15 (15q24.3). It was first identified in 2007.
Otoancorin is a protein found in the vertebrate inner ear, on the sensory epithelia where it connects to the gel matrix.
Pejvakin is a protein that in humans is encoded by the PJVK gene.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.