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ACOX1

The protein encoded by this gene is the first enzyme of the fatty acid beta-oxidation pathway, which catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. It donates electrons directly to molecular oxygen, thereby producing hydrogen peroxide. Defects in this gene result in pseudoneonatal adrenoleukodystrophy, a disease that is characterized by accumulation of very long chain fatty acids. Alternatively spliced transcript variants encoding different isoforms have been identified.
Protein class

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

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Hepatocytes, Proximal enterocytes, Distal enterocytes)

Immune cell specificity

Group enriched (neutrophil, basophil)

Cell line specificity

Cell line enhanced (BEWO, RT4)

Interaction

Homodimer (PubMed:32169171). Interacts with LONP2 (PubMed:18281296).

Molecular function

Oxidoreductase

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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