Literature summary for 4.1.3.4 extracted from

Lin, W.D.; Wang, C.H.; Lai, C.C.; Tsai, Y.; Wu, J.Y.; Chen, C.P.; Tsai, F.J.
Molecular analysis of Taiwanese patients with 3-hydroxy-3-methylglutaryl CoA lyase deficiency (2009), Clin. Chim. Acta, 401, 33-36.

Search for more literature for 4.1.3.4

Application

Application	Comment	Organism
medicine	3-hydroxy-3-methylglutaryl CoA lyase deficiency is a rare autosomal recessive mitochondrial disease characterized by a deficiency in the enzyme 3-hydroxy-3-methylglutaryl CoA lyase	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
additional information	c.494G to T, p.Arg165Gln, missense mutation in the 3-hydroxy-3-methylglutaryl CoA lyase gene	Homo sapiens
additional information	IVS3+1G to A, slice site mutation	Homo sapiens
additional information	IVS6-1G to A slice site mutation	Homo sapiens

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
mitochondrion	-	Homo sapiens	5739	-

Molecular Weight [Da]

Molecular Weight [Da]	Molecular Weight Maximum [Da]	Comment	Organism
31600	-	-	Homo sapiens

Natural Substrates/ Products (Substrates)

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

Organism

Organism	UniProt	Comment	Textmining
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-methylglutaryl CoA lyase	-	Homo sapiens
HMGCL	-	Homo sapiens

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Release 2023.1 (January 2023)