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