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17β-HSD4 Polyclonal Antibody, 100μg, (ATB-T15386)

$199.00
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Background: 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]Product datasheet: Overview Product Description 17β-HSD4 Polyclonal Antibody, 100μg, (ATB-T15386) Image Species Reactivities Human,Mouse,Rat Immunogen Synthesized peptide derived from the N-terminal region of human 17β-HSD4. Properties Form Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide. Storage Instructions-20°C/1 year References: On the molecular basis of D-bifunctional protein deficiency type III. Mehtälä ML, et al. PLoS One, 2013. PMID 23308274 Free PMC Article Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency. McMillan HJ, et al. Orphanet J Rare Dis, 2012 Nov 22. PMID 23181892 Free PMC Article Typical cMRI pattern as diagnostic clue for D-bifunctional protein deficiency without apparent biochemical abnormalities in plasma. Grønborg S, et al. Am J Med Genet A, 2010 Nov. PMID 20949532 Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. Pierce SB, et al. Am J Hum Genet, 2010 Aug 13. PMID 20673864 Free PMC Article Identification of a substrate-binding site in a peroxisomal beta-oxidation enzyme by photoaffinity labeling with a novel palmitoyl derivative. Kashiwayama Y, et al. J Biol Chem, 2010 Aug 20. PMID 20566640 Free PMC Article

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17β-HSD4 Polyclonal Antibody, 100μg, (ATB-T15386)
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