DAAM1 Chromosome 14

Dishevelled associated activator of morphogenesis 1
1 variant 1 Health Risk

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What This Gene Does
Cell motility, adhesion, cytokinesis, and other functions of the cell cortex are mediated by reorganization of the actin cytoskeleton and several formin homology (FH) proteins have been associated with these processes. The protein encoded by this gene contains two FH domains and belongs to a novel FH protein subfamily implicated in cell polarity. A key regulator of cytoskeletal architecture, the small GTPase Rho, is activated during development by Wnt/Fz signaling to control cell polarity and movement. The protein encoded by this gene is thought to function as a scaffolding protein for the Wnt-induced assembly of a disheveled (Dvl)-Rho complex. This protein also promotes the nucleation and elongation of new actin filaments and regulates cell growth through the stabilization of microtubules. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2012]
Gene Info
Gene Group
"Armadillo like helical domain containing|Formins"
Locus Type
gene with protein product
Location
14q23.1
Ensembl
ENSG00000100592
Associated Conditions (1)
Seizure
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS145787738 Health Risk Conflicting classifications of pathogenicity Seizure, Seizure
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