3-hydroxy-3-methylglutaryl-coa Reductase; Hmgcr

Description

HMG-CoA reductase ({EC 1.1.1.88}), a transmembrane glycoprotein of the endoplasmic reticulum, is the rate-limiting enzyme in cholesterol biosynthesis and converts HMG-CoA to mevalonate. Mevalonate can be converted to cholesterol through a series of enzymatic reactions; it can also serve as the precursor for several nonsterol isoprenoid compounds such as ubiquinone, dolichol, and the isopentenyl group of tRNA. The activity of HMGCR is finely regulated by a negative feedback mechanism in which cholesterol and the other end products of the metabolic pathway suppress the enzyme in a multivalent fashion. Cholesterol suppresses reductase activity primarily by inhibiting the rate of transcription of the reductase gene (summary by Reynolds et al., 1984). See review by Goldstein and Brown (1990).

Clinical Features

Phenotypes and symptoms related to 3-hydroxy-3-methylglutaryl-coa Reductase; Hmgcr

  • Neoplasm

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

3-hydroxy-3-methylglutaryl-coa Reductase; Hmgcr Is also known as hmg-coa reductase.

Researches and researchers

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Sources and references

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OMIM Rare Disease Symptoms Checker

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