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ERAB


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A mitochondrial enzyme (endoplasmic reticulum associated binding protein, hydroxyacyl-CoA dehydrogenase II (HADH2), 17-β-hydroxysteroid dehydrogenase X, short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD), amyloid β-binding alcohol dehydrogenase (ABAD), EC 1.1.1.178, 262 aa) that acts on a wide spectrum of substrates, including steroids, alcohols, and fatty acids. Interacts with β-amyloid in the brain tissue of patients with Alzheimer's disease, and the complex may be responsible for neurotoxicity. Reduced expression of the HADH2 protein probably causes an X-linked mental retardation syndrome (MRXS10) and deficiency causes problems with isoleucine degradation.

Subjects: Medicine and Health.


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