ACAT2

ACAT22016-12-31T22:27:58+00:00

ACAT2

METABOLISM

Definition ACAT2 is the gene on chromosome 6q25.3-q26 that encodes cytosolic acetoacetyl-CoA thiolase (OMIM: 100678, UniProtKB: Q9BWD1), an enzyme involved in lipid metabolism. It plays a role in the superpathway of geranylgeranyldiphosphate biosynthesis I —via mevalonate and valine, leucine and isoleucine degradation.

Molecular pathology Defects of ACAT2 are linked to thiolase and ketothiolase deficiencies. 

Synonyms Acetyl-CoA acetyltransferase 2, acetyl-CoA acetyltransferase—cytosolic, ACTL, EC 2.3.1.9 

Reference http://www.genecards.org/cgi-bin/carddisp.pl?gene=ACAT2

http://www.uniprot.org/uniprot/Q9BWD1

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