PLEKHA1 gene

pleckstrin homology domain containing A1

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

Binds specifically to phosphatidylinositol 3,4-diphosphate (PtdIns3,4P2), but not to other phosphoinositides. May recruit other proteins to the plasma membrane.

Cytogenetic Location: 10q26.13, which is the long (q) arm of chromosome 10 at position 26.13

Molecular Location: base pairs 122,374,578 to 122,432,355 on chromosome 10 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 10q26.13, which is the long (q) arm of chromosome 10 at position 26.13