ARHGAP29

---

title: "ARHGAP29" type: doc version: 1 created: 2026-02-28 author: "Wikipedia contributors" status: active scope: public tags: ["genes-on-human-chromosome-1"] description: "Protein-coding gene in the species Homo sapiens" topic_path: "general/genes-on-human-chromosome-1" source: "https://en.wikipedia.org/wiki/ARHGAP29" license: "CC BY-SA 4.0" wikipedia_page_id: 0 wikipedia_revision_id: 0

::summary Protein-coding gene in the species Homo sapiens ::

ARHGAP29 is a gene located on chromosome 1p22 that encodes Rho GTPase activating protein (GAP) 29, a protein that mediates the cyclical regulation of small GTP binding proteins such as RhoA.

Function

ARHGAP29 is expressed in the developing face and may act downstream of IRF6 in craniofacial development.

Structure

ARHGAP29 contains four domains including a coiled-coil region known to interact with Rap2, a C1 domain, the Rho GTPase domain, and a small C-terminal region that interacts with PTPL1.

Clinical significance

The 1p22 locus containing ARHGAP29 was associated with nonsyndromic cleft lip/palate by genome wide association and meta-analysis. A follow-up study 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.

References

References

1. (September 2008). "Mammalian Rho GTPases: new insights into their functions from in vivo studies". Nature Reviews. Molecular Cell Biology.
2. (September 1997). "A novel GTPase-activating protein for Rho interacts with a PDZ domain of the protein-tyrosine phosphatase PTPL1". The Journal of Biological Chemistry.
3. (November 2012). "Expression and mutation analyses implicate ARHGAP29 as the etiologic gene for the cleft lip with or without cleft palate locus identified by genome-wide association on chromosome 1p22". Birth Defects Research. Part A, Clinical and Molecular Teratology.
4. (April 2005). "PARG1, a protein-tyrosine phosphatase-associated RhoGAP, as a putative Rap2 effector". Biochemical and Biophysical Research Communications.
5. (June 2010). "A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4". Nature Genetics.
6. (September 2012). "Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci". Nature Genetics.

::callout[type=info title="Wikipedia Source"] This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page. ::