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plekhb1

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Official Full Name
pleckstrin homology domain containing, family B (evectins) member 1
Background
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.
Synonyms
PLEKHB1; pleckstrin homology domain containing, family B (evectins) member 1; KPL1; PHR1; PHRET1; pleckstrin homology domain-containing family B member 1

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