Rho GTPase-activating protein 20 (ARHGAP20, KIAA1391)
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Function
- GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state
Structure
- contains 1 PH domain
- contains 1 Ras-associating domain
- contains 1 Rho-GAP domain
Alternative splicing
named isoforms=5
Expression
- expressed predominantly in the brain
- lower expression is found in lymph nodes
- low expression is found in fetal liver
Pathology
- chromosomal translocation t(X;11)(q21;q23) involving ARHGAP20 with BRWD3 associated with B-cell chronic lymphocytic leukemia (B-CLL)
- translocation does not result in fusion transcripts but disrupts both genes
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q9P2F6.html
- ↑ Atlas of Genetics and Cytogenetics in Oncology and Haematology http://atlasgeneticsoncology.org/Genes/ARHGAP20ID42979ch11q23.html