DAAM1

DAAM1

DAAM1

Protein-coding gene in the species Homo sapiens


Dishevelled-associated activator of morphogenesis 1 is a protein that in humans is encoded by the DAAM1 gene.[5][6][7] Evidence of alternative splicing has been observed for this gene but the full-length nature of these variants has not been determined.

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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.[7]

Clinical significance

The deletion of a single copy of this gene has been associated with congenital heart defects.[8]


References

  1. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  2. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. Liu W, Sato A, Khadka D, Bharti R, Diaz H, Runnels LW, Habas R (Jan 2008). "Mechanism of activation of the Formin protein Daam1". Proc Natl Acad Sci U S A. 105 (1): 210–5. Bibcode:2008PNAS..105..210L. doi:10.1073/pnas.0707277105. PMC 2224188. PMID 18162551.
  4. Bao B, Zhang L, Hu H, Yin S, Liang Z (August 2012). "Deletion of a single-copy DAAM1 gene in congenital heart defect: a case report". BMC Med. Genet. 13 (1): 63. doi:10.1186/1471-2350-13-63. PMC 3482563. PMID 22857009.

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