Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions About   Site Map   Contact Us
 
Home A service of the U.S. National Library of Medicine®
 
 
Printer-friendly version
OTOF

OTOF

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?

nonsyndromic deafness - caused by mutations in the OTOF gene

At least 16 mutations in the OTOF gene have been identified in people with a form of nonsyndromic deafness (hearing loss without related signs and symptoms affecting other parts of the body) called DFNB9. People with these mutations have a type of hearing loss called auditory neuropathy, which occurs when sound is not transmitted properly from the inner ear to the brain.

Some mutations in the OTOF gene result in the production of an abnormally small, nonfunctional version of otoferlin or prevent cells from making any of this protein. Other genetic changes probably alter the 3-dimensional structure of otoferlin, which impairs its ability to bind to calcium.

A particular OTOF mutation is a common cause of nonsyndromic deafness in the Spanish population. This mutation replaces one amino acid building block, glutamine, with a signal that stops protein production prematurely at position 829 in the otoferlin protein (written as Gln829Ter or Q829X). The Q829X mutation causes an abnormally short version of otoferlin to be made, which disrupts the protein's function and leads to hearing loss.

Where is the OTOF gene located?

Cytogenetic Location: 2p23.1

Molecular Location on chromosome 2: base pairs 26,457,202 to 26,558,697

The OTOF gene is located on the short (p) arm of chromosome 2 at position 23.1.

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 26,457,202 to base pair 26,558,697 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?

  • DFNB6
  • DFNB9
  • FER1L2
  • Fer-1 like protein 2
  • NSRD9
  • OTOF_HUMAN

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?

amino acid ; auditory ; autosomal ; autosomal recessive ; calcium ; cell ; cochlea ; gene ; glutamine ; mutation ; neuropathy ; neurotransmitters ; population ; protein ; recessive ; vesicle

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.

 
Reviewed: November 2006
Published: September 15, 2014