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. [provided by RefSeq, Sep 2010].
Wilson, Sunley, Smith, Pope, Bromhead, Fitzpatrick, Di Rocco, van Steensel, Coman, Leventer, Delatycki, Amor, Bahlo, Lockhart: "Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome." in: European journal of human genetics : EJHG, Vol. 22, Issue 6, pp. 741-7, (2014) (PubMed).