human skeletal muscle tissue were subjected to SDS PAGE followed by western blot with FNab00072(ACAT1 antibody) at dilution of 1:1000
Immunohistochemistry of paraffin-embedded human liver using FNab00072(ACAT1 antibody) at dilution of 1:100
Background
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.