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PLEKHA1 is 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.
Gene Name: | pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 |
Synonyms: | PLEKHA1, TAPP-1, TAPP1 |
Target Sequences: | NM_021622 NP_067635.2 Q9HB21 |
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