Closed pnrobinson closed 3 months ago
@MickeySegal Not sure what enzyme this is. Do we mean this: https://www.uniprot.org/uniprotkb/Q8NCW8/entry or Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency (https://pubmed.ncbi.nlm.nih.gov/2882519/) or ?
The paper is from 1987, and it is unclear how it maps onto current understanding of disease, so it might be better to go by https://www.omim.org/entry/609015 which refers to "long-chain 3-oxoacyl-CoA thiolase" and is the origin of our finding name.
We are both referring to the same condition. I added "long-chain 3-keto-acyl CoA thiolase (LCKAT) deficiency" as a synonym to our entry for https://omim.org/entry/609015.
I am coding this as https://enzyme.expasy.org/EC/2.3.1.16, with accepted name acetyl-CoA C-acyltransferase, synonyms 3-ketoacyl-CoA thiolase, beta-ketothiolase reaction acetyl-CoA + an acyl-CoA = a 3-oxoacyl-CoA + CoA
@MickeySegal Adding new term:
New term request Long-chain 3-oxoacyl-CoA thiolase activity low in fibroblasts (segal_071121192022): UMLS: 2675272