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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.
Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has 3 C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin, while the long form has 6 C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion and in the control of neurotransmitter release at these output synapses. Interacts in a calcium-dependent manner to the presynaptic SNARE proteins at ribbon synapses of cochlear inner hair cells (IHCs) to trigger exocytosis of neurotransmitter. Also essential to synaptic exocytosis in immature outer hair cells (OHCs). May also play a role within the recycling of endosomes.
Deafness, autosomal recessive, 9 (DFNB9): 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.
Auditory neuropathy, autosomal recessive, 1 (AUNB1): A form of sensorineural hearing loss with absent or severely abnormal auditory brainstem response, in the presence of normal cochlear outer hair cell function and normal otoacoustic emissions. 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. In some cases AUNB1 phenotype can be temperature sensitive. The disease is caused by mutations affecting the gene represented in this entry.
|601071 (http://omim.org/entry/601071)||DEAFNESS, AUTOSOMAL RECESSIVE 9|
Cytogenetic Location: 2p23.1
Molecular Location on chromosome 2: base pairs 26,457,203 to 26,558,698
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 26,457,203 to base pair 26,558,698 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 OTOF 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 ; Ca ; calcium ; cell ; domain ; endosomes ; gene ; hair cells ; homology ; isoforms ; lesion ; neuropathy ; phenotype ; plasma ; plasma membrane ; presynaptic ; protein ; recessive ; sensorineural ; sensorineural hearing loss ; spermatogenesis ; transcript ; transmembrane ; vesicle
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.