Gene HSD17B4
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Also known as
hydroxysteroid 17-beta dehydrogenase 4, D-bifunctional protein, DBP, MFP2Overview
HSD17B4 (Hydroxysteroid 17-Beta Dehydrogenase 4) encodes a multifunctional peroxisomal enzyme involved in the beta-oxidation of very long chain fatty acids and steroid metabolism. The enzyme has multiple catalytic domains including 17-beta-hydroxysteroid dehydrogenase activity, important for steroid hormone interconversion, particularly in androgen and estrogen metabolism.Mutations in HSD17B4 cause D-bifunctional protein deficiency, a severe peroxisomal disorder characterized by neurodegeneration, hypotonia, and seizures. Milder variants may affect steroid metabolism and have been associated with altered hormone levels. The gene's role in both fatty acid oxidation and steroid metabolism makes it relevant to multiple metabolic pathways.
Understanding your HSD17B4 genetic status provides insights into peroxisomal function and steroid metabolism. This information is relevant for understanding fatty acid metabolism, hormone balance, and potentially neurodevelopmental conditions in family planning contexts.