LongevityMap Gene
Gene details
- HGNC symbol
- CPT1A
- Aliases
- CPT1; CPT1-L; L-CPT1
- Common name
- carnitine palmitoyltransferase 1A
- Description
- The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and carnitine palmitoyltransferase II (which is located in the inner membrane and is detergent-stable), together with a carnitine-acylcarnitine translocase. CPT I is the key enzyme in the carnitine-dependent transport across the mitochondrial inner membrane and its deficiency results in a decreased rate of fatty acid beta-oxidation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
- Cytogenetic Location
- 11q13.3
- UCSC Genome Browser
- View 11q13.3 on the UCSC genome browser
- OMIM
- 600528
- Ensembl
- ENSG00000110090
- UniProt/Swiss-Prot
- A0A024R5F4_HUMAN
- Entrez Gene
- 1374
- UniGene
- 503043
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Caenorhabditis elegans
- cpt-1
- Danio rerio
- cpt1aa
- Danio rerio
- cpt1ab
- Drosophila melanogaster
- whd
- Mus musculus
- Cpt1a
- Rattus norvegicus
- Cpt1a
- Saccharomyces cerevisiae
- CAT2
In other databases
- GenDR gene expression
- A homolog of this gene for Mus musculus is present as Cpt1a
Studies (1)
Significant/Non-significant: 0/1
- Longevity Association
- Non-significant
- Population
- Italian (Southern)
- Study Design
- A two-stage case-control study was performed to identify the association between longevity and variation of in homeostasis regulation pathway genes. 317 SNPs in 104 genes were analyzed in 78 cases (≥90 years, median age 98 years, 42 females) and 71 controls (<90 years, median age 67 years, 32 females) in stage 1. Then, 31 candidate SNPs identified in stage 1 (π markers = 0.1) were analyzed in an independent sample composed by 288 cases (≥90 years, median age 92 years, 163 females) and 554 controls (<90 years, median age 67 years, 277 females).
- Conclusions
- After adjustment for multiple testing, no significant association was identified between various SNPs and longevity.
- Indentifier
- rs11228372
- Reference