Aliases for PLEKHA1 Gene
- Pleckstrin Homology Domain Containing A1 2 3 5
- Pleckstrin Homology Domain Containing, Family A (Phosphoinositide Binding Specific) Member 1 2 3
- Tandem PH Domain-Containing Protein 1 3 4
- TAPP1 3 4
- Pleckstrin Homology Domain-Containing, Family A (Phosphoinositide Binding Specific) Member 1 2
- PH Domain-Containing Family A Member 1 4
- Tandem PH Domain Containing Protein-1 2
- TAPP-1 4
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 IL-2 Pathway and B Cell Receptor Signaling Pathway (WikiPathways). 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 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.