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Reviewed November 2006
What is the official name of the OTOF gene?
The official name of this gene is “otoferlin.”
OTOF is the gene's official symbol. The OTOF gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the OTOF gene?
The OTOF gene provides instructions for making a protein called otoferlin. This protein is present in the brain and the cochlea, which is a snail-shaped structure in the inner ear that helps process sound. Although the exact function of otoferlin is uncertain, it appears to be essential for normal hearing. Researchers believe that otoferlin may play a role in releasing chemical signals (neurotransmitters) from nerve cells that are involved in hearing. This process is dependent on the concentration of calcium within the cell. The otoferlin protein has several regions called C2 domains that bind to calcium and use it to interact with other molecules.
How are changes in the OTOF gene related to health conditions?
Where is the OTOF gene located?
Cytogenetic Location: 2p23.1
Molecular Location on chromosome 2: base pairs 26,457,203 to 26,558,698
The OTOF gene is located on the short (p) arm of chromosome 2 at position 23.1.
More precisely, the OTOF gene is located from base pair 26,457,203 to base pair 26,558,698 on chromosome 2.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about OTOF?
You and your healthcare professional may find the following resources about OTOF helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the OTOF gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding OTOF?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (9 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.