From NCBI Gene: Age-related macular degeneration 1

     From NCBI Gene: 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] From UniProt: Binds specifically to phosphatidylinositol 3,4-diphosphate (PtdIns3,4P2), but not to other phosphoinositides. May recruit other proteins to the plasma membrane.

The following transcription factors affect gene expression:

• Evi-1
• FAC1
• Nkx3-1 v1
• Nkx3-1

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.

Molecular Function:

• Lipid Binding
• Pdz Domain Binding
• Phosphatidylinositol-3,4-Bisphosphate Binding

Biological Processes:

• Luteinization
• Spermatogenesis
• Androgen Metabolic Process
• Estrogen Metabolic Process
• Post-Embryonic Development
• Phosphatidylinositol 3-Kinase Signaling
• Ruffle Organization
• Leydig Cell Differentiation
• Multicellular Organism Growth
• Establishment Of Protein Localization
• Platelet-Derived Growth Factor Receptor Signaling Pathway
• Skeletal System Morphogenesis
• B Cell Receptor Signaling Pathway
• Negative Regulation Of Protein Kinase B Signaling
• Palate Development
• Face Morphogenesis
• Cellular Response To Hydrogen Peroxide