LongevityMap variant
Entry Details
- Longevity Association
- Significant
- Population
- American (Caucasian)
- Study Design
- Genotypes were studied in 2224 men and women aged 65 or older at baseline
- Conclusions
- During 10 years of follow-up, men with the -438 A/A genotype had decreased mortality due to all causes, and lived, on average, longer than men with the -438 G allele. The effects of -438 G/A in women were smaller and not statistically significant.
- Identifier
- -438A/G
- Cytogenetic Location
- 13q14.13
- UCSC Genome Browser
- View 13q14.13 on the UCSC genome browser
Gene details
- HGNC symbol
- CPB2
- Aliases
- CPU; PCPB; TAFI
- Common name
- carboxypeptidase B2
- Description
- Carboxypeptidases are enzymes that hydrolyze C-terminal peptide bonds. The carboxypeptidase family includes metallo-, serine, and cysteine carboxypeptidases. According to their substrate specificity, these enzymes are referred to as carboxypeptidase A (cleaving aliphatic residues) or carboxypeptidase B (cleaving basic amino residues). The protein encoded by this gene is activated by trypsin and acts on carboxypeptidase B substrates. After thrombin activation, the mature protein downregulates fibrinolysis. Polymorphisms have been described for this gene and its promoter region. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
- OMIM
- 603101
- Ensembl
- ENSG00000080618
- UniProt/Swiss-Prot
- A0A087WSY5_HUMAN
- Entrez Gene
- 1361
- UniGene
- 512937
- HapMap
- View on HapMap