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Gene : PICALM Homo sapiens

Name  ? phosphatidylinositol binding clathrin assembly protein Cytological Location  11q14.2
Brief Description  phosphatidylinositol binding clathrin assembly protein
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. [provided by RefSeq, May 2011]
  • synonyms:
  • NM_007166,
  • PICALM,
  • uc001pbm.4,
  • LAP,
  • HGNC:15514,
  • BC048259,
  • CALM,
  • CALM,
  • CLTH,
  • OTTHUMG00000166981,
  • CLTH
  • identifiers:
  • 8301,
  • ENSG00000073921,
  • PICALM

Genome feature

Region: gene ? Length: 112711  
Location: 11:85957171-86069881 reverse strand Cyto location: 11q14.2


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1 Diseases

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958 SN Ps

5 Cross References

19 Data Sets

9 Homologues

0 Located Features

90 Rna Seq Results