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Genetics Home Reference: your guide to understanding genetic conditions
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DFNB59

The information on this page was automatically extracted from online scientific databases.

What is the official name of the DFNB59 gene?

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.

What is the normal function of the DFNB59 gene?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/494513):

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]

From UniProt (PJVK_HUMAN) (http://www.uniprot.org/uniprot/Q0ZLH3):

Essential in the activity of auditory pathway neurons.

How are changes in the DFNB59 gene related to health conditions?

Genetics Home Reference provides information about nonsyndromic hearing loss, which is associated with changes in the DFNB59 gene.
UniProt (PJVK_HUMAN) (http://www.uniprot.org/uniprot/Q0ZLH3) provides the following information about the DFNB59 gene's known or predicted involvement in human disease.

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.

NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/494513) lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the DFNB59 gene.
  • Deafness, autosomal recessive 59
OMIM.org (http://omim.org/), a catalog designed for genetics professionals and researchers, provides the following information about the DFNB59 gene and its association with health conditions.
OMIM
Number
Title

Where is the DFNB59 gene located?

Cytogenetic Location: 2q31.2

Molecular Location on chromosome 2: base pairs 178,450,592 to 178,461,390

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/494513))

The DFNB59 gene is located on the long (q) arm of chromosome 2 at position 31.2.

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.

Where can I find additional information about DFNB59?

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.

What other names do people use for the DFNB59 gene or gene products?

  • PJVK

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding DFNB59?

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.

 
Published: February 1, 2016