HMGCR (3-hydroxy-3-methylglutaryl-CoA reductase) encodes the endoplasmic-reticulum enzyme that performs the rate-limiting step of the mevalonate pathway. It is named by 1 disorder entry: Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28.
ai-gene-review gives HMGCR's core molecular function as hydroxymethylglutaryl-CoA reductase (NADPH) activity, acting in cholesterol biosynthetic process; and isoprenoid biosynthetic process, at the endoplasmic reticulum membrane.
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28 types HMGCR as causative, with a germline origin, and places the gene on the node Reduced HMG-CoA Reductase Catalytic Activity, which marks the same reductase activity as decreased.
ClinGen classifies HMGCR for 1 disease, the broad autosomal recessive limb-girdle muscular dystrophy class rather than the numbered subtype, so the dismech entry matched to it is Autosomal Recessive Limb-Girdle Muscular Dystrophy, not the HMGCR entry itself.
The KB's HMGCR node is annotated with the molecular function only, so it shares 0 process terms with ai-gene-review; the downstream mevalonate-pathway node in the entry carries the pathway process without naming the gene.
Underlined values are claims re-computed from the knowledge base each time this page is built. The tables below are the source of truth.
ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28 | causative germline |
mechanism: Reduced HMG-CoA Reductase Catalytic Activity
variant: NM_000859.2:c.2519G>A p.(Arg840Gln); NM_000859.3:c.2465G>A p.(Gly822Asp); p.(Arg641Cys)
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| autosomal recessive limb-girdle muscular dystrophy MONDO:0015152 | AR | Moderate 2024-08-13 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.