Gene Symbol | TRIOBP |
Entrez Gene ID | 11078 |
Full Name | TRIO and F-actin binding protein |
Synonyms | DFNB28,HRIHFB2122,TAP68,TARA,dJ37E16.4 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Deafness, autosomal recessive 28, 609823 (3) |