HMGCS1

Chr 5p12

3-hydroxy-3-methylglutaryl-CoA synthase 1

MANE:: ENST00000325110.11

OMIM: 142940 ↗NCBI: 3157 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

HMGCS1 · Q01581

v62025-08-01

Predicted Aligned Error matrix for HMGCS1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

91.3/ 100

Very high

520 residues

Confidence breakdown

Very high(≥ 90)87%
Confident(70–90)1%
Low(50–70)2%
Very low(< 50)9%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Congenital myopathy
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodegenerative disease
0.56
rigid spine syndrome
0.52
mathematical ability
0.34
prostate carcinoma
0.24
Alzheimer disease
0.23
Parkinson disease
0.23
multiple sclerosis
0.23
lysosomal storage disease
0.23
schizophrenia
0.21
hepatocellular carcinoma
0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Hydroxymethylglutaryl-CoA synthase, cytoplasmic

Catalyzes the condensation of acetyl-CoA with acetoacetyl-CoA to form HMG-CoA, which is converted by HMG-CoA reductase (HMGCR) into mevalonate, a precursor for cholesterol synthesis