Symbol: MTTP Name: microsomal triglyceride transfer protein Alias: MTP; ABL Entrez gene ID: 4547 Ensembl gene ID: ENSG00000138823 Species: Human (Taxid: 9606) Functional 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]; rate limiting step in lipoprotein synthesis; Catalyzes the transport of triglyceride, cholesteryl ester, and phospholipid between phospholipid surfaces. Required for the secretion of plasma lipoproteins that contain apolipoprotein B. [UniProt] Observation: In a genome-wide scan for loci associated with exceptional longevity in 308 excpetinoal long-lived individuals (representing 17 sibships) a locus on chromosome 4 which maps to MTTP appears to be associated with long-lifespan in this group of subjects [11526246]. Siblings of centenarians are four times more likely to live into their 90s than control siblings [10326548]. Among a U.S.-based group of lon-lived individuals, there is a statistically significant under-representation of a risk allele of MTTP. These result was not replicated in a French-based longevity study, but this discrepancy could be due to a lack of statistically significance [11778046]. Howerver, another study failed to find a significant correlation between MTTP haplotype and longevity in1589 German nonagenarians, centenarians, and appropriately matched controls [15911777]. Neither the chromosomal loci nor MTTP were found to be associated with longevity in nonagenarian individuals in the Leiden Longevity study and Leiden 85-Plus Study [16611701]. Despite the lack of replication, humans homozysous for two on-functioning alleles of MTTP suffer from abetalipoproteinemia and lack of ApoB particles in serum. Also drugs that inhibit MTTP improve lipoprotein profiles.MTTP was found to be associated with longevity [16015282]. MTTP was found to be associated with longevity [17339647]. MTTP was found to be associated with longevity [16611701]. MTTP was found to be associated with longevity [16611701]. MTTP was found to be associated with longevity [16611701]. MTTP was found to be associated with longevity [16611701]. MTTP was found to be associated with longevity [16611701]. MTTP was found to be associated with longevity [16611701]. MTTP was not found to be associated with longevity [15911777]. MTTP was found to be associated with longevity [22496539]. Assays: Organismal Lifespan Longevity Associated Variants: Classification: References: Aging Relevance Analysis/Source: Homologs Edit \ Update (Admin) | Delete |
Comment on This Data Unit