Gene: PICALM

Alternate names for this Gene: CALM|CLTH|LAP

Gene Summary: 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.

Gene is located in Chromosome: 11

Location in Chromosome : 11q14.2

Description of this Gene: phosphatidylinositol binding clathrin assembly protein

Type of Gene: protein-coding

rs10501602 in PICALM gene and Alzheimer's Disease PMID 22832961 2012 Genome-wide association study of Alzheimer's disease.

PMID 29777097 2018 GWAS on family history of Alzheimer's disease.

PMID 25778476 2016 A novel Alzheimer disease locus located near the gene encoding tau protein.

PMID 30617256 2019 Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk.

rs655641 in PICALM gene and Platelet Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs7938033 in PICALM gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.