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ACAT1

This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. Defects in this gene are associated with 3-ketothiolase deficiency, an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone.
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 (Proximal tubular cells, Distal tubular cells, Hepatocytes, Cardiomyocytes)

Immune cell specificity

Low immune cell specificity

Cell line specificity

Cell line enhanced (RPMI-8226)

Interaction

Homotetramer.

Molecular function

Acyltransferase, Transferase

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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