OTOG encodes otogelin (2,925 aa). Glycoprotein specific to acellular membranes of the inner ear. May be required for the anchoring of the otoconial membranes and cupulae to the underlying neuroepithelia in the vestibule. Highest expression in Testis (3.4 TPM) and Pituitary (1.7 TPM).

Autosomal recessive nonsyndromic hearing loss 18B is associated with mutations in the OTOG gene on chromosome 11.

OTOG is classified as a druggable target (Druggable Genome category) with score 0.0.

Genetic testing for OTOG is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 1 always present feature, 2 common features.

No clinical trials have been registered for autosomal recessive nonsyndromic hearing loss 18B.

2 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 18B. Research spans Case Report / Case Series (50%) and Epidemiology / Natural History (50%).

Recent Publications

• Arai Y (2025). [PMID: 39858607](https://pubmed.ncbi.nlm.nih.gov/39858607/). *Genes*. [Epidemiology / Natural History]

• An Y (2025). [PMID: 40389292](https://pubmed.ncbi.nlm.nih.gov/40389292/). *BMJ case reports*. [Case Report / Case Series]