TRIOBP

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Identifiers
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External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
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RefSeq (mRNA)

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RefSeq (protein)

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TRIO and F-actin-binding protein is a protein that in humans is encoded by the TRIOBP gene.[1][2][3][4]

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).[4]

References

  1. Seipel K, O'Brien SP, Iannotti E, Medley QG, Streuli M (Jan 2001). "Tara, a novel F-actin binding protein, associates with the Trio guanine nucleotide exchange factor and regulates actin cytoskeletal organization". J Cell Sci. 114 (Pt 2): 389–99. PMID 11148140.
  2. Riazuddin S, Khan SN, Ahmed ZM, Ghosh M, Caution K, Nazli S, Kabra M, Zafar AU, Chen K, Naz S, Antonellis A, Pavan WJ, Green ED, Wilcox ER, Friedman PL, Morell RJ, Riazuddin S, Friedman TB (Dec 2005). "Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness". Am J Hum Genet. 78 (1): 137–43. doi:10.1086/499164. PMC 1380211. PMID 16385457.
  3. Shahin H, Walsh T, Sobe T, Abu Sa'ed J, Abu Rayan A, Lynch ED, Lee MK, Avraham KB, King MC, Kanaan M (Dec 2005). "Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss". Am J Hum Genet. 78 (1): 144–52. doi:10.1086/499495. PMC 1380212. PMID 16385458.
  4. 4.0 4.1 "Entrez Gene: TRIOBP TRIO and F-actin binding protein".

Further reading




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