DAAM1 explained

Dishevelled-associated activator of morphogenesis 1 is a protein that in humans is encoded by the DAAM1 gene.[1] [2] [3] Evidence of alternative splicing has been observed for this gene but the full-length nature of these variants has not been determined.

Function

Cell motility, adhesion, and cytokinesis, and other functions of the cell cortex are mediated by the reorganization of the actin cytoskeleton and recent evidence suggests a role for formin homology (FH) proteins in these processes. The protein encoded by this gene contains FH domains and belongs to a novel FH protein subfamily implicated in cell polarity. Wnt/Fz signaling activates the small GTPase Rho, a key regulator of cytoskeleton architecture, to control cell polarity and movement during development. Activation requires Dvl-Rho complex formation, an assembly mediated by this gene product, which is thought to function as a scaffolding protein.

Clinical significance

The deletion of a single copy of this gene has been associated with congenital heart defects.[4]

Further reading

Notes and References

  1. Habas R, Kato Y, He X . Wnt/Frizzled activation of Rho regulates vertebrate gastrulation and requires a novel Formin homology protein Daam1 . Cell . 107 . 7 . 843–54 . Jan 2002 . 11779461 . 10.1016/S0092-8674(01)00614-6 . free .
  2. Liu W, Sato A, Khadka D, Bharti R, Diaz H, Runnels LW, Habas R . Mechanism of activation of the Formin protein Daam1 . Proc Natl Acad Sci U S A . 105 . 1 . 210–5 . Jan 2008 . 18162551 . 2224188 . 10.1073/pnas.0707277105 . 2008PNAS..105..210L . free .
  3. Web site: Entrez Gene: DAAM1 dishevelled associated activator of morphogenesis 1.
  4. Bao B, Zhang L, Hu H, Yin S, Liang Z . Deletion of a single-copy DAAM1 gene in congenital heart defect: a case report . BMC Med. Genet. . 13 . 1 . 63 . August 2012 . 22857009 . 10.1186/1471-2350-13-63 . 3482563 . free .