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
Identifier
rs3851179
In Other Studies (IDs)
1960
Cytogenetic Location
11q14.2
UCSC Genome Browser
View 11q14.2 on the UCSC genome browser

Gene details

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

Homologs in model organisms

Danio rerio
picalm
Mus musculus
Picalm
Rattus norvegicus
Picalm

References

Piaceri et al. (2011)

Other variants which are also part of this study