Gene
HMGCR
3-hydroxy-3-methylglutaryl-CoA reductase
- HGNC 5006(opens in a new tab)
- Ensembl gene ENSG00000113161(opens in a new tab)
- NCBI Gene 3156(opens in a new tab)
Summary
- Cytogenetic location
- 5q13.3
- Coordinates
- Chromosome 5: 75,337,220–75,362,101 (GRCh38)
- Exons
- 20 exons across 24.9 kb
- Protein
- 888 amino acids
- MANE Select transcript
- ENST00000287936.9NM_000859.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Limb-Girdle Muscular Dystrophy
Limb-girdle Muscular Dystrophy is defined as a collection of numerous subtypes with differing inheritance patterns (with diagnostic sufficiency being varied too). Carriers of variants related to the condition should seek guidance from a muscular-skeletal specialist for a definitive diagnosis.
- ClinGen rates the link moderate
- 2 GenCC submitters rate it definitive or strong
How HMGCR is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 4.5 kb of the gene's 24.9 kb; 2,667 of those bases code for the protein.
How a genome test reads HMGCR
2
positions in HMGCR where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 24.9 kb of HMGCR, introns included, not only the 4.5 kb of exons.
Traits linked to HMGCR
The Human Phenotype Ontology lists these as features of the rare conditions HMGCR can cause. Each trait's page lists the other genes linked to it.
Abnormality of the musculoskeletal system
- Axial muscle weakness
- Centrally nucleated skeletal muscle fibers
- Decreased lung function due to weak breathing muscles
- Lower limb amyotrophy
- Proximal neurogenic muscle weakness
- Reduced muscle fiber alpha dystroglycan
- Type 1 muscle fiber predominance
- Type 2 muscle fiber predominance
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). HMGCR gene: 3-hydroxy-3-methylglutaryl-CoA reductase. Retrieved 16 October 2026, from https://dantelabs.com/genes/hmgcr
Dante Labs. HMGCR gene: 3-hydroxy-3-methylglutaryl-CoA reductase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/hmgcr
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