OTTHUMP00000020651, PH domain containing family A member 1, PH domain-containing family A member 1, PKHA1_HUMAN, Pleckstrin homology domain containing family A member 1, Pleckstrin homology domain containing, family A (phosphoinositide binding specific) member, Pleckstrin homology domain-containing family A member 1, PLEKHA1, Tandem PH domain containing protein 1, Tandem PH domain-containing protein 1, TAPP 1, TAPP-1, TAPP1.
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]
