{"symbol":"STAP1","synonyms":["BRDG1","STAP-1"],"name":"signal transducing adaptor family member 1","description":"The protein encoded by this gene contains a proline-rich region, a pleckstrin homology (PH) domain, and a region in the carboxy terminal half with similarity to the Src Homology 2 (SH2) domain. This protein is a substrate of tyrosine-protein kinase Tec, and its interaction with tyrosine-protein kinase Tec is phosphorylation-dependent. This protein is thought to participate in a positive feedback loop by upregulating the activity of tyrosine-protein kinase Tec. Variants of this gene have been associated with autosomal-dominant hypercholesterolemia (ADH), which is characterized by elevated low-density lipoprotein cholesterol levels and in increased risk of coronary vascular disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]","ncbiEntrezGeneId":26228,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/26228","proteins":[{"symbol":"STAP1_HUMAN","href":"/api/1.0/protein/STAP1_HUMAN"}],"hgncRootFamilies":[{"name":"SH2 domain containing","href":"/api/1.0/gene_family/SH2+domain+containing"}]}