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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 protein encoded by this gene is a member of the gasdermin family, a family which is found only in vertebrates. The encoded protein is required for the proper function of auditory pathway neurons. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal recessive type 59 (DFNB59). [provided by RefSeq, Dec 2008]
Essential in the activity of auditory pathway neurons.
Deafness, autosomal recessive, 59 (DFNB59): A form of sensorineural hearing impairment with absent or severely abnormal auditory brainstem response but normal otoacoustic emissions (auditory neuropathy or auditory dys-synchrony). Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. The disease is caused by mutations affecting the gene represented in this entry.
|610220 (http://omim.org/entry/610220)||DEAFNESS, AUTOSOMAL RECESSIVE 59|
|610219 (http://omim.org/entry/610219)||DFNB59 GENE|
Cytogenetic Location: 2q31.2
Molecular Location on chromosome 2: base pairs 178,450,592 to 178,461,390
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 178,450,592 to base pair 178,461,390 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.
auditory ; auditory nerve ; autosomal ; autosomal recessive ; brainstem ; gene ; hair cells ; lesion ; neuropathy ; protein ; recessive ; sensorineural
You may find definitions for these and many other terms in the Genetics Home Reference 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.