Entrez gene ID | | 59338 |
Official gene symbol | | PLEKHA1 |
Full name | | pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 |
Aliases | | ,TAPP1, |
Gene summary | | 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. |
Location | | Chromosome: 10 Locus: 10q26.13 |
Gene position | | 124134220 - 124191866 Map Viewer |
Gene orientation | | plus |
Gene size | | 57647 bp |
Gene sequence |
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OMIM ID | | 607772 |