Phosphatidylinositol-Binding Clathrin Assembly Protein

Alternative Names

  • PICALM
  • Clathrin Assembly Lymphoid-Myeloid Leukemia Protein
  • CALM
  • CLTH
  • LAP, Drosophila, Homolog of
  • LAP

Associated Diseases

Alzheimer Disease
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OMIM Number

603025

NCBI Gene ID

8301

Uniprot ID

Q13492

Length

112,708 bases

No. of Exons

23

No. of isoforms

5

Protein Name

Phosphatidylinositol-binding clathrin assembly protein

Molecular Mass

70755 Da

Amino Acid Count

652

Genomic Location

chr11:85,957,175-86,069,882

Gene Map Locus
11q14.2

Description

This gene encodes a clathrin assembly protein, which recruits clathrin and adaptor protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. The protein may be required to determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. The protein is involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction. A chromosomal translocation t(10;11)(p13;q14) leading to the fusion of this gene and the MLLT10 gene is found in acute lymphoblastic leukemia, acute myeloid leukemia and malignant lymphomas. The polymorphisms of this gene are associated with the risk of Alzheimer disease. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NC_000011.10:g.86157598=LebanonNC_000011.10:g.86157598=AssociationAlzheimer Disease3851179
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