AlphaFold predicted structure
HMGCL · P35914
Mean pLDDT
92.0/ 100
Very high
325 residues
Confidence breakdown
- Very high(≥ 90)87%
- Confident(70–90)3%
- Low(50–70)3%
- Very low(< 50)7%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
HMGCL
Chr 1p36.113-hydroxy-3-methylglutaryl-CoA lyase
- Aliases:
- HL, HMGCL1
- MANE:
- ENST00000374490.8
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalHyperammonaemia
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomalAdult onset leukodystrophy
BIALLELIC, autosomal or pseudoautosomalChildhood onset dystonia, chorea or related movement disorder
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Disease associations (Open Targets)
3-hydroxy-3-methylglutaric aciduria
0.85long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
0.52hereditary disease
0.49Intellectual disability
0.37neurodegenerative disease
0.22hepatocellular carcinoma
0.09nasopharyngeal carcinoma
0.08lung cancer
0.07lung carcinoma
0.07nonpapillary renal cell carcinoma
0.07
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Hydroxymethylglutaryl-CoA lyase, mitochondrial
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA lyase that catalyzes a cation-dependent cleavage of (S)-3-hydroxy-3-methylglutaryl-CoA into acetyl-CoA and acetoacetate, a key step in ketogenesis. Terminal step in leucine catabolism. Ketone bodies (beta-hydroxybutyrate, acetoacetate and acetone) are essential as an alternative source of energy to glucose, as lipid precursors and as regulators of metabolism