|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
The official name of this gene is “deafness, autosomal recessive 59.”
DFNB59 is the gene's official symbol. The DFNB59 gene is also known by other names, listed below.
The DFNB59 gene provides instructions for making a protein called pejvakin. This protein is present in the nerves leading from the inner ear to the brain (auditory nerves). It is also found in the part of the brain that is connected to the spinal cord (the brainstem). Although the exact function of pejvakin is uncertain, it appears to be essential for normal hearing. Hearing requires the conversion of sound waves to nerve impulses that are transmitted via the auditory nerves to the brain. Researchers believe that pejvakin may play a role in the transmission of nerve impulses that register sound.
Researchers have identified at least two DFNB59 mutations that cause a form of nonsyndromic deafness (hearing loss without related signs and symptoms affecting other parts of the body). 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.
The DFNB59 mutations replace one of the protein building blocks (amino acids) used to make pejvakin with an incorrect amino acid. It is unclear how these mutations lead to hearing loss. Research suggests that an altered pejvakin protein prevents the normal transmission of nerve impulses from the inner ear to the brain.
Cytogenetic Location: 2q31.2
Molecular Location on chromosome 2: base pairs 179,316,162 to 179,326,112
The DFNB59 gene is located on the long (q) arm of chromosome 2 at position 31.2.
More precisely, the DFNB59 gene is located from base pair 179,316,162 to base pair 179,326,112 on chromosome 2.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about DFNB59 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
acids ; amino acid ; auditory ; autosomal ; autosomal recessive ; gene ; neuropathy ; protein ; recessive
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.