ARHGAP29 is a

gene In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...

located on chromosome 1p22 that encodes Rho GTPase activating protein (GAP) 29, a

protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...

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 Interferon regulatory factor 6 also known as IRF6 is a protein that in humans is encoded by the ''IRF6'' gene. Function This gene encodes a member of the interferon regulatory transcription factor (IRF) family. Family members share a highly c ...

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 A cleft lip contains an opening in the upper lip that may extend into the nose. The opening may be on one side, both sides, or in the middle. A cleft palate occurs when the palate (the roof of the mouth) contains an opening into the nose. The te ...

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

. The finding of ARHGAP29's role in craniofacial development was discovered after the adjacent

ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4, also known as ABCA4 or ABCR, is a protein which in humans is encoded by the ''ABCA4'' gene. ABCA4 is a member of the ATP-binding cassette transporter gene sub-family A (ABC1) found exclusively ...

gene lacked functional or expression data to support it as the etiologic gene for nonsyndromic

even though SNPs in the ABCA4 gene were associated with cleft lip/palate.

References

External links

* * {{UCSC gene details, ARHGAP29 Genes on human chromosome 1