Clinical Significance
The protein has also been implicated in the development of Alzheimer's disease. Missense and silent mutations in the gene are the cause of hydroxysteroid (17β) dehydrogenase X (HSD10) deficiency, formerly MHBD deficiency, and X-linked mental retardation, choreoathetosis, and abnormal behavior (MRXS10), respectively.
Read more about this topic: HSD17B10
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