TRIOBP


Description

The TRIOBP (TRIO and F-actin binding protein) is a protein-coding gene located on chromosome 22.

TRIO and F-actin-binding protein is a protein that in humans is encoded by the TRIOBP gene. This gene encodes a protein that interacts with Trio, which is involved with neural tissue development and in controlling actin cytoskeleton organization, cell motility, and cell growth. This trio-binding protein also associates with F-actin and stabilizes F-actin structures. Domains contained in this encoded protein are an N-terminal pleckstrin homology domain and a C-terminal coiled-coil region. 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, though some transcripts may be subject to nonsense-mediated decay (NMD).

[Isoform 1]: Regulates actin cytoskeletal organization, cell spreading and cell contraction by directly binding and stabilizing filamentous F-actin and prevents its depolymerization (PubMed:18194665, PubMed:28438837). May also serve as a linker protein to recruit proteins required for F-actin formation and turnover (PubMed:18194665). Essential for correct mitotic progression (PubMed:24692559, PubMed:22820163). {ECO:0000269|PubMed:18194665, ECO:0000269|PubMed:22820163, ECO:0000269|PubMed:24692559, ECO:0000269|PubMed:28438837}

TRIOBP is also known as DFNB28, HRIHFB2122, TAP68, TARA, dJ37E16.4.

Associated Diseases


Disclaimer

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