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The official name of this gene is “TRIO and F-actin binding protein.”
TRIOBP is the gene's official symbol. The TRIOBP gene is also known by other names, listed below.
This gene encodes a protein with an N-terminal pleckstrin homology domain and a C-terminal coiled-coil region. The protein interacts with trio, which is involved with neural tissue development and controlling actin cytoskeleton organization, cell motility and cell growth. The protein also associates with F-actin and stabilizes F-actin structures. Mutations in this gene have been associated with a form of autosomal recessive nonsyndromic deafness. Multiple alternatively spliced transcript variants that would encode different isoforms have been found for this gene, however some transcripts may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Nov 2008]
May regulate actin cytoskeletal organization, cell spreading and cell contraction by directly binding and stabilizing filamentous F-actin. The localized formation of TARA and TRIO complexes coordinates the amount of F-actin present in stress fibers. May also serve as a linker protein to recruit proteins required for F-actin formation and turnover.
Deafness, autosomal recessive, 28 (DFNB28): 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.
|609823 (http://omim.org/entry/609823)||DEAFNESS, AUTOSOMAL RECESSIVE 28|
|609761 (http://omim.org/entry/609761)||TRIO- AND F-ACTIN-BINDING PROTEIN|
Cytogenetic Location: 22q13.1
Molecular Location on chromosome 22: base pairs 37,696,988 to 37,776,556
The TRIOBP gene is located on the long (q) arm of chromosome 22 at position 13.1.
More precisely, the TRIOBP gene is located from base pair 37,696,988 to base pair 37,776,556 on chromosome 22.
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 TRIOBP 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.
actin ; autosomal ; autosomal recessive ; cell ; contraction ; cytoskeleton ; domain ; gene ; homology ; isoforms ; protein ; recessive ; sensorineural ; sensorineural hearing loss ; stress ; tissue ; transcript
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.