Literature summary for 4.1.3.4 extracted from

Al-Sayed, M.; Imtiaz, F.; Alsmadi, O.A.; Rashed, M.S.; Meyer, B.F.
Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population (2006), BMC Med. Genet., 7, 86.

Search for more literature for 4.1.3.4

Protein Variants

Protein Variants	Comment	Organism
R41Q	missense mutation causing 3-hydroxy-3-methylglutaric aciduria	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
blood	-	Homo sapiens	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
(S)-3-Hydroxy-3-methylglutaryl-CoA	-	Homo sapiens	Acetyl-CoA + acetoacetate	-	?

Synonyms

Synonyms	Comment	Organism
3-hydroxy-3-methylglutarate-CoA lyase	-	Homo sapiens
HMGCL	-	Homo sapiens

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Release 2023.1 (January 2023)