Lurp

Cross-platforn SNP explorer. By Peter D'Adamo, ND


rs3741049

Hard Link
rs3741049 is a snp on gene ACAT1 (acetyl-CoA acetyltransferase 1)

GeneACAT1 Chromosome number 11 Chromosome position 108139200
Alleles G/A (transliterated to +) Minor Allele A Minor Allele Frequency 0.1542
Notation 579+159G>A -02 Clinical significance Orientation (dbSNP) - (negative/reverse strand)
SNP Function
ACAT1-02 (acetyl coenzme A acetyltransferase) contributes to lipid balance, helping to prevent the accumulation of excess cholesterol. ACAT is also involved in energy generation, through supporting the conversion of protein, fats and carbohydrates (from food) into energy. As a result ACAT mutations impact lipid balance, cholesterol levels, and energy levels, and may also deplete B12, which is needed for the long route around the methylation cycle.
Gene Function

The ACAT1 gene provides instructions for making an enzyme that is found in the mitochondria, the energy-producing centers within cells. This enzyme plays an essential role in breaking down carbohydrates, proteins and fats from the diet. Specifically, it begins in the citric acid cycle to form citrate which will eventually make ATP, the energy currency of all metabolic activity. In protein catabolism, it helps process isoleucine, an amino acid that is a building block of many proteins. This enzyme is also involved in processing ketones, which are molecules that are produced when fats are broken down in the body. Problems with ACAT gene function are significant for the following reasons:

  • Cholesterol formation
  • Lipid (fatty acid) balance and fluidity in the cell membranes, which impacts neurological function
  • Ensuring healthy myelin nerve coating
  • Contributing to energy production via the citric acid cycle and its impact on the mitochondria, which signal cellular activity and supply cellular energy
  • Accumulation of oxalates, which in excess can contribute to kidney stones and cause other health problems
  • Metastatic cancer
This SNP is reported by one or more services.


23andme V3

REPORTED




23andme V4

REPORTED




23andme V5

NOT REPORTED




Ancestry DNA

REPORTED




Genos Export for Promethease

NOT REPORTED




Opus 23 Curated

CURATED




CLINVAR Curated

NOT CURATED




GWAS Curated

NOT CURATED





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