LongevityMap variant group
Entry Details
- Longevity Association
- Non-significant
- Population
- American (Caucasian), French
- Study Design
- A haplotype-based fine-mapping study was performed in 653 individuals (456 females, >= 98 years, mean age = 100.8 years) and controls (< 50 years, mean age = 38.6 years). Then, the identified haplotype marker was tested in 564 French (472 females, >= 99 years, mean age = 103.1 years) and 564 controls (18- 70 years, mean age = 51.2 years).
- Conclusions
- Although the association was not replicated in French cohort, there was evidence for statistical distortion in the form of Hardy–Weinberg disequilibrium.
Variants (6)
- Gene summary:
- No gene (3)
- MTTP (2)
- PPP3CA (1)
No gene
MTTP
Gene details
- HGNC symbol
- MTTP
- Aliases
- ABL; MTP
- Common name
- microsomal triglyceride transfer protein
- Description
- MTP encodes the large subunit of the heterodimeric microsomal triglyceride transfer protein. Protein disulfide isomerase (PDI) completes the heterodimeric microsomal triglyceride transfer protein, which has been shown to play a central role in lipoprotein assembly. Mutations in MTP can cause abetalipoproteinemia. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 20
- OMIM
- 157147
- Ensembl
- ENSG00000138823
- UniProt/Swiss-Prot
- B7Z7X3_HUMAN
- Entrez Gene
- 4547
- UniGene
- 195799
- HapMap
- View on HapMap
Homologs in model organisms
PPP3CA
Gene details
- HGNC symbol
- PPP3CA
- Aliases
- CALN; CCN1; CNA1; CALNA; PPP2B; CALNA1
- Common name
- protein phosphatase 3 catalytic subunit alpha
- Description
- OMIM
- 114105
- Ensembl
- ENSG00000138814
- UniProt/Swiss-Prot
- A0A0S2Z4B5_HUMAN
- Entrez Gene
- 5530
- UniGene
- 435512
- HapMap
- View on HapMap