3-hydroxy-3-methylglutaryl coenzyme A lyase (HMG-CoA lyase, HMGCL)
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Function
- ketogenesis & leucine catabolism; final step
(S)-3-hydroxy-3-methylglutaryl-CoA <--> acetyl-CoA + acetoacetate
Structure
Compartment
Expression
fibroblasts, liver & lymphoblasts
Pathology
-defects in HMGCL are the cause of hydroxymethylglutaricaciduria
More general terms
References
- ↑ Primary Hyperlipoproteinemias, Steiner & Shafrir (eds), McGraw Hill, NY, 1991, pg 14
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=HMGCL
- ↑ UniProt http://www.uniprot.org/uniprot/P35914.html