HMGCR


Description

The HMGCR (3-hydroxy-3-methylglutaryl-CoA reductase) is a protein-coding gene located on chromosome 5.

HMG-CoA reductase (HMGCR) is the rate-limiting enzyme in the mevalonate pathway, which produces cholesterol and other isoprenoids. It catalyzes the conversion of HMG-CoA to mevalonic acid, a necessary step in cholesterol biosynthesis. In mammalian cells, HMGCR activity is tightly controlled through competitive suppression. Statins, widely available cholesterol-lowering drugs, target HMGCR. HMGCR is anchored in the endoplasmic reticulum membrane and possesses eight transmembrane domains. The active site resides in a long carboxyl terminal domain in the cytosol. The gene for HMGCR is located on chromosome 5 in humans. Related enzymes with similar functions are found in other organisms, including animals, plants, and bacteria. The main isoform of HMGCR in humans is 888 amino acids long and is a polytopic transmembrane protein.

HMGCR 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. HMGCR is the main target of statins, a class of cholesterol-lowering drugs.

HMGCR is also known as LDLCQ3, LGMDR28, MYPLG.

Associated Diseases


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