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Validated All-in-One™ qPCR Primer for ACAT1(NM_000019.3) Search again
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
Summary
This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. Defects in this gene are associated with 3-ketothiolase deficiency, an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone.
Gene References into function
- Single base substitutions at the initiator codon produced wild-type T2 polypeptide to various degrees
- "mild" mutations (A132G, D339-V340insD) retained some residual T2 activity
- Cloning and sequencing long range PCR products revealed a 6.4kb deletion. Alu element-mediated unequal homologous recombination between an Alu-Sx in intron 1 and another Alu-Y in intron 4 appears to be responsible for this deletion.
- E252del is a temperature-sensitive K(m) mutant.
- Crystallographic and kinetic studies were made on mitochondrial acetyl-CoA thiolase: the importance of potassium and chloride ions were noted for its structure and function.
- Several residues in one subunit closely interact with the same residues in the other subunit; mutating these res. to Cys does not lead to loss in enzyme activity. Mutating residues F453, A457, or H460 to Cys causes large loss in enzyme activity.
- increase in the in vitro ACAT1 activity in PC-3 prostate cancer cells treated with androgen
- The results suggest that rs1044925 polymorphism in ACAT1 gene is not only associated with serum LDL-C and nHDLC levels in healthy Chinese subjects in Chengdu area, but also with HDL-C level in subjects with endogenous hypertriglyceridemia.
- A point mutation was responsible for the aberrant RNA splicing of the mitochondrial acetoacetyl-CoA thiolase gene.
- RNA secondary structures located in the vicinity of the GGC(1274-1276) codon are required for production of the 56-kDa isoform.
- sequence recognition by the catalytic domain differs between hT2 and hT10 in that hT10 requires a pre-existing GalNAc residue while hT2 does not
- ACAT inhibition may stimulate cholesterol-catabolic (cytochrome P450) pathway in lesion-macrophages.
- Angiotensin II enhances foam cell formation by upregulating ACAT1 expression predominantly through the actions of AT(1) receptor via the G protein/c-Src/PKC/MAPK pathway in human monocyte-macrophages
- I/D polymorphism of ACE gene and AC AT1 gene influence the development of hypertension and Left Ventricular Hypertrophy in Hemodialysis patients.
