{"symbol":"PLEKHA1","synonyms":["TAPP1"],"name":"pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1","description":"This gene encodes a pleckstrin homology domain-containing adapter protein. The encoded protein is localized to the plasma membrane where it specifically binds phosphatidylinositol 3,4-bisphosphate. This protein may be involved in the formation of signaling complexes in the plasma membrane. Polymorphisms in this gene are associated with age-related macular degeneration. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 5.[provided by RefSeq, Sep 2010]","ncbiEntrezGeneId":59338,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/59338","proteins":[{"symbol":"PKHA1_HUMAN","href":"/api/1.0/protein/PKHA1_HUMAN"}],"hgncRootFamilies":[{"name":"Pleckstrin homology domain containing (PLEKH)","href":"/api/1.0/gene_family/Pleckstrin+homology+domain+containing+%28PLEKH%29"}]}