Structure
The TRIO protein contains 3 functional domains: a serine/threonine kinase domain and 2 guanine nucleotide exchange factor (GEF) domains for the family of Rho-like GTPases, specific for Rac1 (MIM.602048) and RhoA (MIM.165390). These functional domains suggest that this enzyme may play a key role in several signaling pathways that control cell proliferation.
Pathology
Copy number gains and high-level amplifications of the short arm of chromosome 5 are frequently observed in soft (...)
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Putative cancer genes
Articles
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TRIO
11 September 2007 -
GAB2
14 September 2007Chromosome arm 11q amplifications involving the mixed lineage leukemia gene (MLL) locus are rare but recurrent aberrations in acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS). GAB2 is a novel target of 11q amplification in AML/MDS.
In addition to the MLL core amplicon, independent sequences in 11q23-24 and/or 11q13.5 are coamplified within the same cytogenetic markers in 90% and 60% of patients, respectively.
The minimal amplicon in 11q13.5 measures 1.17 Mb.
Pathology
The (...) -
BOP1
11 September 2007Pathology
Inactivation in human cells of several components of the Pes1-Bop1 complex (BOP1, GRWD1, PES1, ORC6L, and RPL3), involved in ribosome biogenesis, alters chromosome segregation.
Dosage increase of the BOP1 gene is a frequent event during colorectal tumorigenesis (detected in 39% of the tumors) it is associated with an increase of BOP1 mRNA. (#16804918#)
Transient overexpression of BOP1 in human cells increased the percentage of multipolar spindles. (#16804918#)
See also (...)
