基因名:
PLEKHA1
产品别名:
TAPP1; PLEKHA1; pleckstrin homology domain containing A1; pleckstrin homology domain containing A1; pleckstrin homology domain-containing family A member 1; pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1; tandem PH domain-containing protein 1; 含普列克底物同源物域家族A成员1(PLEKHA1); 含普列克底物蛋白家族A成员1;
背景信息:
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]