ARHGAP29 is a gene located on chromosome 1p22 that encodes Rho GTPase activating protein (GAP) 29,[5] a protein that mediates the cyclical regulation of small GTP binding proteins such as RhoA.[6]
ARHGAP29 contains four domains including a coiled-coil region known to interact with Rap2,[8] a C1 domain, the Rho GTPase domain, and a small C-terminal region that interacts with PTPL1.[6]
The 1p22 locus containing ARHGAP29 was associated with nonsyndromic cleft lip/palate by genome wide association[9] and meta-analysis.[10] A follow-up study[7] identified rare coding variants including a nonsense and a frameshift variant in patients with nonsyndromic cleft lip/palate. The finding of ARHGAP29's role in craniofacial development was discovered after the adjacent ABCA4 gene lacked functional or expression data to support it as the etiologic gene for nonsyndromic cleft lip/palate even though SNPs in the ABCA4 gene were associated with cleft lip/palate.
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Heasman SJ, Ridley AJ (September 2008). "Mammalian Rho GTPases: new insights into their functions from in vivo studies". Nature Reviews. Molecular Cell Biology. 9 (9): 690–701. doi:10.1038/nrm2476. PMID18719708. S2CID16205866.
^Myagmar BE, Umikawa M, Asato T, Taira K, Oshiro M, Hino A, et al. (April 2005). "PARG1, a protein-tyrosine phosphatase-associated RhoGAP, as a putative Rap2 effector". Biochemical and Biophysical Research Communications. 329 (3): 1046–1052. doi:10.1016/j.bbrc.2005.02.069. PMID15752761.
