背景
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],
功能
domain:Binds to membranes enriched in PtdIns3,4P2 via the C-terminal PH domain.,function:Binds specifically to phosphatidylinositol-3,4-diphosphate (PtdIns3,4P2), but not to other phosphoinositides. May recruit other proteins to the plasma membrane.,similarity:Contains 1 PH domain.,similarity:Contains 2 PH domains.,subcellular location:Locates to the plasma membrane after treatments that stimulate the production of PtdIns3,4P2.,subunit:Binds MPDZ and PTPN13.,tissue specificity:Highly expressed in skeletal muscle, thymus, pancreas, placenta and lung. Detected at low levels in brain, heart, peripheral blood leukocytes, testis, ovary, spinal cord, thyroid, kidney, liver, small intestine and colon.,
