PLEKHA1 Antibody – Rabbit Polyclonal

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]

PLEKHA1: Binds specifically to phosphatidylinositol 3,4- diphosphate (PtdIns3,4P2), but not to other phosphoinositides. May recruit other proteins to the plasma membrane. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Lipid-binding

Chromosomal Location of Human Ortholog: 10q26.13

Cellular Component: nucleoplasm; cytoplasm; plasma membrane

Molecular Function: protein binding; phosphatidylinositol-3,4-bisphosphate binding; PDZ domain binding

Biological Process: estrogen metabolic process; phosphoinositide 3-kinase cascade; negative regulation of protein kinase B signaling cascade; multicellular organism growth; androgen metabolic process; platelet-derived growth factor receptor signaling pathway; palate development; post-embryonic development; B cell receptor signaling pathway; establishment of protein localization; Leydig cell differentiation; skeletal morphogenesis; luteinization; ruffle organization and biogenesis; spermatogenesis

Disease: Macular Degeneration, Age-related, 1