Chromosome - 4 SNP - rs6552828 Gene Name - ACSL1

Basic Information

Genotype Frequency
  • AG
  • GG
  • AA
Allele Frequency
  • G
  • A

SNP Expression Description

How does this fit in to your daily life?

For more information, please schedule a consult with one of our HealthCoach7 Genetic Specialist.

General SNP Description

The G allele of this SNP is marginally associated with elite endurance athletic status in Chinese (Han) male population, but there is no such association in Caucasians. The gene is ACSL1, which encodes for an Long-chain-fatty-acid- CoA ligase. This is one enzyme of a big family of enzymes that convert free long-chain fatty acids into fatty acyl-CoA esters and therefore play a key role in lipid biosynthesis and fatty acid degradation. In melanocytes, or cells at the bottom layer of the epidermis, ACSL1 may be regulated by Microphthalmia-Associated Transcription Factor (MITF). MITF may be involved in the rewiring of signaling cascades that are specifically required for the survival and function of their normal cell precursors, such as melanocytes. The protein encoded by the ACSL1 gene influences metabolic syndrome risk. Metabolic Syndrome (MetS) is a group of risk factors that occur together and increase the risk for Coronary Artery Disease, Stroke, and Type 2 Diabetes. The following are risk factors for MetS: elevated blood pressure, abdominal (central) obesity, elevated fasting plasma glucose, high serum triglycerides and low to high density cholesterol (LDL and HDL) ratio levels. Most patients with MetS are older, obese, lead an inactive lifestyle, and have a degree of insulin resistance. There are a number of biomarkers that are often increased with MetS, for instance systemic inflammation, C-reactive protein, fibrinogen, interleukin 6 (IL-6), tumor necrosis factor alpha (TNFalpha), among others. Weight gain is associated with MetS along with increased visceral fat (fat in organs not designed for fat storage). The continuous supply of energy through dietary carbohydrate, lipid, and protein fuels unmatched with physical activity/energy demand arguably creates an accumulation of products of mitochondrial oxidation, a process associated with progressive mitochondrial dysfunction and insulin resistance.

For more information, please schedule a consult with one of our HealthCoach7 Genetic Specialist.