LongevityMap variant

Entry Details

Longevity Association: Significant
Population: Italian
Study Design: The common polymorphism rs3851179 in PICALM was studied in 105 centenarians and 359 healthy controls
Conclusions: There was a statistically significant difference in rs3851179 genotypes and allele frequencies in the centenarians

HGNC symbol: PICALM
Aliases: LAP; CALM; CLTH
Common name: 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]
Other longevity studies of this gene: 1
OMIM: 603025
Ensembl: ENSG00000073921
UniProt/Swiss-Prot: A0A024R5L7_HUMAN
Entrez Gene: 8301
UniGene: 163893
HapMap: View on HapMap

Piaceri et al. (2011)