HSD17B4 Back

hydroxysteroid (17-beta) dehydrogenase 4

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NCBI Description of HSD17B4
The protein encoded by this gene is a bifunctional enzyme that is involved in the peroxisomal beta-oxidation pathway for fatty acids. It also acts as a catalyst for the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids. Defects in this gene that affect the peroxisomal fatty acid beta-oxidation activity are a cause of D-bifunctional protein deficiency (DBPD). An apparent pseudogene of this gene is present on chromosome 8.

Community Annotation of HSD17B4 Add / Edit HSD17B4: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

HSD17B4 is highly significantly mutated in
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HSD17B4 is significantly mutated in
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HSD17B4 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for HSD17B4