Predicted to enable SH2 domain binding activity; phosphatidylinositol phosphate binding activity; and superoxide-generating NADPH oxidase activator activity. Involved in several processes, including bone development; extracellular matrix disassembly; and superoxide metabolic process. Predicted to be located in podosome. Predicted to be active in cytoplasm. Implicated in Frank-Ter Haar syndrome.
RGD Description
This gene encodes an adapter protein that is characterized by a PX domain and four Src homology 3 domains. The encoded protein is required for podosome formation and is involved in cell adhesion and migration of numerous cell types. Mutations in this gene are the cause of Frank-ter Haar syndrome (FTHS), and also Borrone Dermato-Cardio-Skeletal (BDCS) syndrome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]