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PLEKHA1 pleckstrin homology domain containing A1

Also known as: TAPP1

Summary

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]

Associated conditions

DescriptionTests
Age-related macular degeneration 1
MedGen: C1864205OMIM: 603075GeneReviews: Not available
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Genomic context

Location:
10q26.13
Sequence:
Chromosome: 10; NC_000010.11 (122374578..122432355)
Total number of exons:
18

Links

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