AlphaFold predicted structure
HMGCS2 · P54868
Mean pLDDT
91.9/ 100
Very high
508 residues
Confidence breakdown
- Very high(≥ 90)88%
- Confident(70–90)3%
- Low(50–70)1%
- Very low(< 50)9%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
HMGCS2
Chr 1p123-hydroxy-3-methylglutaryl-CoA synthase 2
- MANE:
- ENST00000369406.8
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomalChildhood onset dystonia, chorea or related movement disorder
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomalHyperammonaemia
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalMitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
0.84hereditary disease
0.41hepatocellular carcinoma
0.11neoplasm
0.11metabolic dysfunction-associated steatotic liver disease
0.10colorectal carcinoma
0.10posterior cortical atrophy
0.09cancer
0.09esophageal squamous cell carcinoma
0.08acute kidney injury
0.08
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Hydroxymethylglutaryl-CoA synthase, mitochondrial
Catalyzes the first irreversible step in ketogenesis, condensing acetyl-CoA to acetoacetyl-CoA to form HMG-CoA, which is converted by HMG-CoA reductase (HMGCR) into mevalonate