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HMGCR

Chr 5q13.3

3-hydroxy-3-methylglutaryl-CoA reductase

MANE:
ENST00000287936.9
OMIM: 142910 ↗NCBI: 3156 ↗Ensembl ↗

Annotations refreshed 7 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal

  • Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

    BIALLELIC, autosomal or pseudoautosomal

  • Congenital muscular dystrophy

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Hypercholesterolemia

    0.74

  • hyperlipidemia

    0.73

  • coronary artery disorder

    0.72

  • familial hypercholesterolemia

    0.70

  • stroke disorder

    0.68

  • cardiovascular disorder

    0.67

  • muscular dystrophy, limb-girdle, autosomal recessive 28

    0.66

  • type 2 diabetes mellitus

    0.63

  • myocardial infarction

    0.62

  • angina pectoris

    0.61

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

Protein function (UniProt)

3-hydroxy-3-methylglutaryl-coenzyme A reductase

Catalyzes the conversion of (3S)-hydroxy-3-methylglutaryl-CoA (HMG-CoA) to mevalonic acid, the rate-limiting step in the synthesis of cholesterol and other isoprenoids, thus plays a critical role in cellular cholesterol homeostasis (PubMed:21357570, PubMed:2991281, PubMed:36745799, PubMed:6995544). HMGCR is the main target of statins, a class of cholesterol-lowering drugs (PubMed:11349148, PubMed:18540668, PubMed:36745799)

Diseases associated with HMGCR

Curated MONDO disease pages that list HMGCR among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.