Aliases for PLEKHA1 Gene
External Ids for PLEKHA1 Gene
Previous GeneCards Identifiers for PLEKHA1 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]
GeneCards Summary for PLEKHA1 Gene
PLEKHA1 (Pleckstrin Homology Domain Containing A1) is a Protein Coding gene. Diseases associated with PLEKHA1 include Macular Degeneration, Age-Related, 1 and Degeneration Of Macula And Posterior Pole. Among its related pathways are ICos-ICosL Pathway in T-Helper Cell and IL-2 Pathway. Gene Ontology (GO) annotations related to this gene include PDZ domain binding and phosphatidylinositol-3,4-bisphosphate binding. An important paralog of this gene is PLEKHA2.
UniProtKB/Swiss-Prot Summary for PLEKHA1 Gene
Binds specifically to phosphatidylinositol 3,4-diphosphate (PtdIns3,4P2), but not to other phosphoinositides. May recruit other proteins to the plasma membrane.