Reactivities: | Human |
Presku: | AAP54277 |
Size: | 100ug |
Weight: | 41kDa |
Gene: | 38 |
Format: | Lyophilized powder |
Target: | ACAT1 is a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. The gene encoding ACAT1 spans approximately 27 kb and contains 12 exons interrupted by 11 introns. Defects in this gene are associated with the alpha-methylacetoaceticaciduria disorder, an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone. |
Alternative names: | ACAT; MAT; T2; THIL |