rs760110147
This variant is located in the CD2AP gene.
▶ClinVar annotation
not provided; Inborn genetic diseases
View on ClinVar →About CD2AP
This gene encodes a scaffolding molecule that regulates the actin cytoskeleton. The protein directly interacts with filamentous actin and a variety of cell membrane proteins through multiple actin binding sites, SH3 domains, and a proline-rich region containing binding sites for SH3 domains. The cytoplasmic protein localizes to membrane ruffles, lipid rafts, and the leading edges of cells. It is implicated in dynamic actin remodeling and membrane trafficking that occurs during receptor endocytosis and cytokinesis. Haploinsufficiency of this gene is implicated in susceptibility to glomerular disease. [provided by RefSeq, Jul 2008]
View all CD2AP variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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