4.1.3.4: hydroxymethylglutaryl-CoA lyase
This is an abbreviated version!
For detailed information about hydroxymethylglutaryl-CoA lyase, go to the full flat file.
Word Map on EC 4.1.3.4
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4.1.3.4
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3-hydroxy-3-methylglutaric
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aciduria
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ketogenesis
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hypoglycemia
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acidosis
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inborn
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3-methylglutaric
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3-methylglutaconic
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ketogenic
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3-hydroxyisovaleric
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hyperammonemia
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hypoketotic
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mevalonii
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lethargy
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3-methylcrotonyl-coa
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medicine
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acetoacetyl-coa
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hl-deficient
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hmgcs2
- 4.1.3.4
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3-hydroxy-3-methylglutaric
- aciduria
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ketogenesis
- hypoglycemia
- acidosis
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inborn
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3-methylglutaric
-
3-methylglutaconic
-
ketogenic
-
3-hydroxyisovaleric
-
hyperammonemia
-
hypoketotic
- mevalonii
- lethargy
- 3-methylcrotonyl-coa
- medicine
- acetoacetyl-coa
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hl-deficient
- hmgcs2
Reaction
Synonyms
3-hydroxy-3-methylglutarate-CoA lyase, 3-Hydroxy-3-methylglutaryl CoA cleaving enzyme, 3-hydroxy-3-methylglutaryl CoA lyase, 3-Hydroxy-3-methylglutaryl coenzyme A lyase, 3-Hydroxy-3-methylglutaryl-CoA lyase, 3-hydroxy-3-methylglutaryl-CoA lyase-like protein, 3-hydroxy-3-methylglutaryl-coenzyme A lyase, 3-hydroxy-methylglutaryl coenzyme A lyase, beta-hydroxy-beta-methylglutaryl-CoA lyase, HCL1, HL, HMG CoA cleavage enzyme, HMG CoA lyase, HMG-CoA lyase, HMGCL, HMGCLL1, HMGL, Hydroxymethylglutaryl coenzyme A lyase, Hydroxymethylglutaryl coenzyme A-cleaving enzyme, LiuE protein
ECTree
4.1.3.4 hydroxymethylglutaryl-CoA lyaseAdvanced search results
results (
results (Engineering
Engineering on EC 4.1.3.4 - hydroxymethylglutaryl-CoA lyase
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PROTEIN VARIANTS 
ORGANISM
UNIPROT
COMMENTARY 
LITERATURE
C141S
strong inter-subunit dimer formation (SDS-PAGE, non-reducing conditions)
C170S
inter-subunit dimer formation not observed (SDS-PAGE, non-reducing conditions)
C170S/C174S
moderate inter-subunit dimer formation (SDS-PAGE, non-reducing conditions)
C170S/C266S
inter-subunit dimer formation not observed (SDS-PAGE, non-reducing conditions)
C170S/C323S
inter-subunit dimer formation not observed (SDS-PAGE, non-reducing conditions)
C174S
moderate inter-subunit dimer formation (SDS-PAGE, non-reducing conditions)
C197S
weak inter-subunit dimer formation (SDS-PAGE, non-reducing conditions)
C234S
weak inter-subunit dimer formation (SDS-PAGE, non-reducing conditions)
C266S
inter-subunit dimer formation not observed (SDS-PAGE, non-reducing conditions)
C307S
moderate inter-subunit dimer formation (SDS-PAGE, non-reducing conditions)
C323S
D204N
D42A
D42H
E279K
E37X
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E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency
G109T
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Spanish patients with the Mediterranean nonsense mutation G109T. The mutation can produce aberrant splicing with three mRNA variants: one of the expected size, the second with deletion of exon 2, and the third with deletion of exons 2 and 3
G203E
G2A
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site-directed mutagenesis of HMGCLL1, eliminatin of N-terminal myristoylation motif by construction of a 3-hydroxy-3-methylglutaryl-CoA lyase-like protein HMGCLL1 G2A mutant, the mutant shows reduced activity compared to wild-type HMGCLL1
H233A
H233R
K48N
R41M
R41Q
S201Y
S75R
additional information
C323S
inter-subunit dimer formation not observed (SDS-PAGE, non-reducing conditions)
C323S
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site-directed mutagenesis of HMGCL, the mutant shows 2fold increased activity compared to wild-type HMGCL
D204N
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reduced catalytic efficiency, mutation causes 3-hydroxy-3-methylgluratic aciduria in vivo
G203E
the mutation causes 3-hydroxy-3-methylglutaric aciduria, it has less than 0.02% of the wild type enzyme activity
K48N
the mutation causes 3-hydroxy-3-methylglutaric aciduria, shows less than 2% of wild type HMG-CoA lyase activity
S201Y
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no catalytic efficiency, mutation causes 3-hydroxy-3-methylgluratic aciduria in vivo
S75R
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no catalytic efficiency, mutation causes 3-hydroxy-3-methylgluratic aciduria in vivo
additional information
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screening for enzyme mutants, identification of naturally occuring mutant FE6-C3 with disrupted gene encoding the enzyme
additional information
the deletion mutant Mut15 (last 15 C-terminal residues deleted) shows less than 2% specific activity, the deletion mutant Mut12 (last 12 C-terminal residues deleted) shows 17% specific activity, the deletion mutant Mut9 (last 9 C-terminal residues deleted) shows 99% specific activity, the deletion mutant Mut6 (last 6 C-terminal residues deleted) shows 93% specific activity, the deletion mutant Mut3 (last 3 C-terminal residues deleted) shows 88% specific activity, compared to the wild type enzyme, respectively
additional information
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the deletion mutant Mut15 (last 15 C-terminal residues deleted) shows less than 2% specific activity, the deletion mutant Mut12 (last 12 C-terminal residues deleted) shows 17% specific activity, the deletion mutant Mut9 (last 9 C-terminal residues deleted) shows 99% specific activity, the deletion mutant Mut6 (last 6 C-terminal residues deleted) shows 93% specific activity, the deletion mutant Mut3 (last 3 C-terminal residues deleted) shows 88% specific activity, compared to the wild type enzyme, respectively
additional information
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c.494G to T, p.Arg165Gln, missense mutation in the 3-hydroxy-3-methylglutaryl CoA lyase gene
