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The official name of this gene is “deafness, autosomal dominant 5.”
DFNA5 is the gene's official symbol. The DFNA5 gene is also known by other names, listed below.
Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Involved in apoptosis and cell survival. Plays a role in the TP53-regulated cellular response to DNA damage probably by cooperating with TP53.
Deafness, autosomal dominant, 5 (DFNA5): A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. The disease is caused by mutations affecting the gene represented in this entry.
Is a tumor suppressor gene with an important role in colorectal cancer (CRC).
|600994 (http://omim.org/entry/600994)||DEAFNESS, AUTOSOMAL DOMINANT 5|
|608798 (http://omim.org/entry/608798)||DFNA5 GENE|
Cytogenetic Location: 7p15
Molecular Location on chromosome 7: base pairs 24,698,355 to 24,758,020
The DFNA5 gene is located on the short (p) arm of chromosome 7 at position 15.
More precisely, the DFNA5 gene is located from base pair 24,698,355 to base pair 24,758,020 on chromosome 7.
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 DFNA5 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.
apoptosis ; autosomal ; autosomal dominant ; cancer ; cell ; cochlea ; colorectal ; DNA ; DNA damage ; expressed ; gene ; isoforms ; mutation ; protein ; sensorineural ; sensorineural hearing loss ; transcript ; tumor ; tumor suppressor gene
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.