LPL

Full Name: Lipoprotein Lipase 

Genomic Location: Chromosome 8:19,901,717-19,967,259

Protein Size: 475 amino acids

Function:

PL encodes lipoprotein lipase, which is expressed in heart, muscle, and adipose tissue. LPL functions as a homodimer, and has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. Severe mutations that cause LPL deficiency result in type I hyperlipoproteinemia, while less extreme mutations in LPL are linked to many disorders of lipoprotein metabolism. 

Linked SNP(s):

  • rs328 is linked to LPL, it is located within the coding region.
  • Population frequencies are approximately 91% for the reference allele (C) and 9% for the alternate allele (G).
  • Studies suggest the G allele is associated with higher educational attainment, while the C allele is associated with lower levels of the good cholesterol (HDL) which can be mitigated by following a healthy diet.
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