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HMGCS2

The protein encoded by this gene belongs to the HMG-CoA synthase family. It is a mitochondrial enzyme that catalyzes the first reaction of ketogenesis, a metabolic pathway that provides lipid-derived energy for various organs during times of carbohydrate deprivation, such as fasting. Mutations in this gene are associated with HMG-CoA synthase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Hepatocytes, Distal enterocytes, Undifferentiated cells, Intestinal goblet cells, Paneth cells)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Group enriched (OE19, RT4)

Interaction

Homodimer.

Molecular function

Transferase

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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