LongevityMap variant

Entry Details

Longevity Association
Significant
Population
Ashkenazi Jewish
Study Design
205 centenarians (141 females, median age = 97 years and 64 males, median age = 97 years), their offspring (n = 145 total, 80 females, median age = 69 years and 65 males median age = 68 years), and 288 controls (167 females, median age = 74 years and 121 males, median age = 75 years) were examined for the association between genotype and longevity
Conclusions
A U-shape pattern of MTP CC genotype frequency with aging was observed. The CC was a buffered-deleterious genotype in the case group. In the control group without longevity genes, CC genotype included poorer survivorship.
Identifier
rs2866164
In Other Studies (IDs)
432 2068 2082 3461
Cytogenetic Location
4q23
UCSC Genome Browser
View 4q23 on the UCSC genome browser

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
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Homologs in model organisms

Danio rerio
mtp
Drosophila melanogaster
Mtp
Mus musculus
Mttp
Rattus norvegicus
Mttp

References

Huffman et al. (2012)

Other variants which are also part of this study