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Gene Review

ARHGAP6  -  Rho GTPase activating protein 6

Homo sapiens

Synonyms: RHOGAP6, RHOGAPX-1, Rho GTPase-activating protein 6, Rho-type GTPase-activating protein 6, Rho-type GTPase-activating protein RhoGAPX-1, ...
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Disease relevance of ARHGAP6


High impact information on ARHGAP6

  • Functional analysis of ARHGAP6, a novel GTPase-activating protein for RhoA [2].
  • 3. Our laboratory isolated a novel rho GTPase-activating protein (rhoGAP) gene named ARHGAP6 from the MLS region [2].
  • ARHGAP6 contains 14 exons encoding a 974 amino acid protein with three putative SH3-binding domains [2].
  • Transfected mammalian cells expressing ARHGAP6 lose their actin stress fibers, retract from the growth surface and extend thin, branching processes resembling filopodia [2].
  • The ARHGAP6 protein co-localizes with actin filaments through an N-terminal domain and recruits F-actin into the growing processes [2].

Biological context of ARHGAP6


Anatomical context of ARHGAP6

  • We pursued two approaches to study the function of ARHGAP6 and its role in the pathogenesis of MLS: gene targeting of the rhoGAP domain in mouse embryonic stem cells and in vitro expression studies [2].
  • The predicted protein sequence of the gene, named ARHGAP6, contains homology to the GTPase-activating (GAP) domain of the rhoGAP family of proteins, which has been implicated in the regulation of actin polymerization at the plasma membrane in several cellular processes [4].

Other interactions of ARHGAP6

  • 3. End-sequencing and database analysis revealed a YAC insert of at least 416 kb containing the genes HCCS and AMELX, and exons 2-16 of ARHGAP6 [3].


  1. Expression in Escherichia coli of human ARHGAP6 gene and purification of His-tagged recombinant protein. Ochocka, A.M., Czyzewska, M., Pawełczyk, T. Acta Biochim. Pol. (2003) [Pubmed]
  2. Functional analysis of ARHGAP6, a novel GTPase-activating protein for RhoA. Prakash, S.K., Paylor, R., Jenna, S., Lamarche-Vane, N., Armstrong, D.L., Xu, B., Mancini, M.A., Zoghbi, H.Y. Hum. Mol. Genet. (2000) [Pubmed]
  3. Microphthalmia with linear skin defects syndrome (MLS): a male with a mosaic paracentric inversion of Xp. Kutsche, K., Werner, W., Bartsch, O., von der Wense, A., Meinecke, P., Gal, A. Cytogenet. Genome Res. (2002) [Pubmed]
  4. Cloning and characterization of a novel rho-type GTPase-activating protein gene (ARHGAP6) from the critical region for microphthalmia with linear skin defects. Schaefer, L., Prakash, S., Zoghbi, H.Y. Genomics (1997) [Pubmed]
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