Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3-ketothiolase deficiency.

Abstract excerpt

Complementary DNAs encoding the precursor of human hepatic mitochondrial acetoacetyl-CoA thiolase (T2) (EC 2.3.1.9) were cloned and sequenced. The cDNA inserts in these clones were 1,518 bases in length when overlapped, and encoded the 427-amino acid precursor of this enzyme (45,199 mol wt). This amino acid sequence included a 33-residue leader peptide moiety and a 394-amino acid subunit of the mature enzyme...

Topics

• Acetyl-CoA C-Acetyltransferase
• Acetyl-CoA C-Acyltransferase
• Amino Acid Sequence
• Base Sequence
• Blotting, Northern
• Cloning, Molecular
• DNA
• Gene Expression
• Humans
• Mitochondria