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. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| HSD17B4-20-RE | 20 (40 μL) | 200 μL |  |
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| HSD17B4-20-OR | 20 (40 μL) | 200 μL |  |
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| HSD17B4-20-GO | 20 (40 μL) | 200 μL |  |
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| HSD17B4-20-GR | 20 (40 μL) | 200 μL |  |
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| HSD17B4-20-AQ | 20 (40 μL) | 200 μL |  |
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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. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
Gene Symbol : HSD17B4
Gene Name : Hydroxysteroid 17-beta dehydrogenase 4
Chromosome : CHR 5: 119,452,442-119,542,334
Locus : 5q23.1
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