Medical Knowledge Cockpit age-related maculopathy, susceptibility to

PLEKHA1

• Identification of pleckstrin-homology-domain-containing proteins with novel phosphoinositide-binding specificities

 

PLEKHA1

This gene encodes a pleckstrin homology domain-containing adapter protein. The encoded protein is localized to theplasma membrane where it specifically binds phosphatidylinositol 3,4-bisphosphate. This protein may be involvedin the formation of signaling complexes in the plasma membrane. Polymorphisms in this gene are associated withage-related macular degeneration. Alternate splicing results in multiple transcript variants. A pseudogene ofthis gene is found on chromosome 5.(provided by RefSeq, Sep 2010)

This gene encodes a pleckstrin homology domain-containing adapter protein

The encoded protein is localized to theplasma membrane where it specifically binds phosphatidylinositol 3,4-bisphosphate. This protein may be involvedin the formation of signaling complexes in the plasma membrane. Polymorphisms in this gene are associated withage-related macular degeneration. Alternate splicing results in multiple transcript variants. A pseudogene ofthis gene is found on chromosome 5.(provided by RefSeq, Sep 2010)