Otogelin

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

Otogelin is a protein that in humans is encoded by the OTOG gene. [5]

AliasesOTOG, DFNB18B, MLEMP, OTGN, otogelin
End17,647,150 bp[1]
Quick facts OTOG, Identifiers ...
OTOG
Identifiers
AliasesOTOG, DFNB18B, MLEMP, OTGN, otogelin
External IDsOMIM: 604487; MGI: 1202064; HomoloGene: 8421; GeneCards: OTOG; OMA:OTOG - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_198497
NM_001277269
NM_001292063

NM_013624

RefSeq (protein)

NP_001264198
NP_001278992

NP_038652

Location (UCSC)Chr 11: 17.55 – 17.65 MbChr 7: 45.89 – 45.96 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse
Close

Function

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].

Deafness

If people don't have otogelin or otogelin-like they are born with mild or moderate deafness.

References

Further reading

Related Articles

Wikiwand AI