catalog number :
MBS950238
products type :
Recombinant Protein
products full name :
Recombinant Human Peroxisomal multifunctional enzyme type 2
products short name :
Peroxisomal multifunctional enzyme type 2
other names :
peroxisomal multifunctional enzyme type 2 isoform 2; Peroxisomal multifunctional enzyme type 2; peroxisomal multifunctional enzyme type 2; hydroxysteroid (17-beta) dehydrogenase 4; 17-beta-hydroxysteroid dehydrogenase 4; 17-beta-HSD 4
products gene name :
HSD17B4
other gene names :
HSD17B4; HSD17B4; DBP; MFE-2; MPF-2; PRLTS1; SDR8C1; EDH17B4; SDR8C1; MFE-2; 17-beta-HSD 4; DBP; MPF-2
uniprot entry name :
DHB4_HUMAN
host :
E Coli or Yeast or Baculovirus or Mammalian Cell
sequence positions :
1-736
sequence :
MGSPLRFDGRVVLVTGAGAGLGRAYALAFAERGALVVVN
DLGGDFKGVGKGSLAADKVVEEIRRRGGKAVANYDSVEE
GEKVVKTALDAFGRIDVVVNNAGILRDRSFARISDEDWD
IIHRVHLRGSFQVTRAAWEHMKKQKYGRIIMTSSASGIY
GNFGQANYSAAKLGLLGLANSLAIEGRKSNIHCNTIAPN
AGSRMTQTVMPEDLVEALKPEYVAPLVLWLCHESCEENG
GLFEVGAGWIGKLRWERTLGA
purity :
Greater than 90% as determined by SDS-PAGE.
form :
Liquid containing glycerol; lyophilization may be available upon request.
storage stability :
Store at -20 degree C, for extended storage, conserve at -20 degree C or -80 degree C.
products categories :
Cancer
ncbi acc num :
NP_000405.1
ncbi gb acc num :
NM_000414.3
ncbi mol weight :
81.69kD
ncbi pathways :
Beta-oxidation Of Pristanoyl-CoA Pathway (1270033); Beta-oxidation Of Very Long Chain Fatty Acids Pathway (1270034); Bile Acid And Bile Salt Metabolism Pathway (1270040); Bile Acid Biosynthesis, Cholesterol = Cholate/chenodeoxycholate Pathway (413432); Bile Acid Biosynthesis, Cholesterol = Cholate/chenodeoxycholate Pathway (468297); Metabolic Pathways (132956); Metabolism Pathway (1269956); Metabolism Of Lipids And Lipoproteins Pathway (1270001); Peroxisomal Lipid Metabolism Pathway (1270031); Peroxisome Pathway (131226)
ncbi summary :
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 summary :
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: EC 4.2.1.107; EC 4.2.1.119; EC 1.1.1.n12; Cell development/differentiation; Lyase; Oxidoreductase; Lipid Metabolism - primary bile acid biosynthesis; Mitochondrial. Chromosomal Location of Human Ortholog: 5q21. Cellular Component: intracellular membrane-bound organelle; membrane; mitochondrion; peroxisomal matrix; peroxisomal membrane; peroxisome. Molecular Function: 3-hydroxyacyl-CoA dehydrogenase activity; 3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity; isomerase activity; long-chain-enoyl-CoA hydratase activity; protein homodimerization activity; receptor binding. Biological Process: androgen metabolic process; bile acid biosynthetic process; bile acid metabolic process; cellular lipid metabolic process; estrogen metabolic process; fatty acid beta-oxidation; fatty acid beta-oxidation using acyl-CoA oxidase; osteoblast differentiation; Sertoli cell development; unsaturated fatty acid metabolic process; very-long-chain fatty acid metabolic process. Disease: D-bifunctional Protein Deficiency; Perrault Syndrome 1
size5 :
0.05 mg (Baculovirus)