Peroxisomal multifunctional enzyme type 2 Recombinant Protein | DHB4 recombinant protein
Recombinant Homo sapiens Peroxisomal multifunctional enzyme type 2
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
HSD17B4: Bifunctional enzyme acting on the peroxisomal beta- oxidation pathway for fatty acids. Catalyzes the formation of 3- ketoacyl-CoA intermediates from both straight-chain and 2-methyl- branched-chain fatty acids. Defects in HSD17B4 are a cause of D-bifunctional protein deficiency (DBPD). DBPD is a disorder of peroxisomal fatty acid beta-oxidation. Defects in HSD17B4 are the cause of Perrault syndrome (PRS). PRS is a sex-influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Some patients also have neurologic manifestations, including mild mental retardation and cerebellar and peripheral nervous system involvement. Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Protein type: Cell development/differentiation; EC 1.1.1.n12; EC 4.2.1.107; EC 4.2.1.119; Lipid Metabolism - primary bile acid biosynthesis; Lyase; Mitochondrial; Oxidoreductase
Chromosomal Location of Human Ortholog: 5q23.1
Cellular Component: membrane; peroxisomal matrix; peroxisomal membrane; peroxisome
Molecular Function: 3-hydroxyacyl-CoA dehydrogenase activity; 3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity; long-chain-enoyl-CoA hydratase activity; protein homodimerization activity; receptor binding
Biological Process: androgen metabolic process; bile acid biosynthetic process; estrogen metabolic process; fatty acid beta-oxidation; fatty acid beta-oxidation using acyl-CoA oxidase; osteoblast differentiation
Disease: D-bifunctional Protein Deficiency; Perrault Syndrome 1
Research Articles on DHB4
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Product Notes
The DHB4 hsd17b4 (Catalog #AAA9422328) is a Recombinant Protein produced from Yeast and is intended for research purposes only. The product is available for immediate purchase. The immunogen sequence is Full Length, 1-736aa. The Recombinant Homo sapiens Peroxisomal multifunctional enzyme type 2 reacts with Human and may cross-react with other species as described in the data sheet. It is sometimes possible for the material contained within the vial of "Peroxisomal multifunctional enzyme type 2, Recombinant Protein" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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