Literature summary for 4.1.3.4 extracted from

Cardoso, M.L.; Rodrigues, M.R.; Leao, E.; Martins, E.; Diogo, L.; Rodrigues, E.; Garcia, P.; Rolland, M.O.; Vilarinho, L.
The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency (2004), Mol. Genet. Metab., 82, 334-338.

Search for more literature for 4.1.3.4

Protein Variants

Protein Variants	Comment	Organism
E37X	E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency	-

Synonyms

Synonyms	Comment	Organism
HMGCL	-	Homo sapiens

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Release 2023.1 (January 2023)