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The protein encoded by HSD17B4 is a bifunctional enzyme that is involved in the peroxisomal beta-oxidation pathway for fatty acids. Additionally we are shipping HSD17B4 Proteins (8) and HSD17B4 Kits (1) and many more products for this protein.
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Human Polyclonal HSD17B4 Primary Antibody for EIA, IHC (p) - ABIN950184
Kashiwayama, Tomohiro, Narita, Suzumura, Glumoff, Hiltunen, Van Veldhoven, Hatanaka, Imanaka: Identification of a substrate-binding site in a peroxisomal beta-oxidation enzyme by photoaffinity labeling with a novel palmitoyl derivative. in The Journal of biological chemistry 2010
Show all 4 references for ABIN950184
The knockdown of dbp (show GC Antibodies) in zebrafish phenocopied clinical manifestations of its deficiency in human.
Molecular models of domain structure of MFE-2 from human, C. elegans, and Drosophila melanogaster lend support to possible structural role of MFE-2 domains including SCP (show UCN3 Antibodies)-2L (sterol carrier protein 2 (show SCP2 Antibodies)-like) domain in human and C. elegans proteins.
Results show that HSD17B4 is highly expressed in hepatocellular carcinoma (HCC (show FAM126A Antibodies)) cells and activated NF-kappaB (show NFKB1 Antibodies) co-localized with the NF-kappaB (show NFKB1 Antibodies)-responsive element of HSD17B4 suggesting that HSD17B4 plays an important role in aggravated HCC (show FAM126A Antibodies) progression.
Structural MFE-2 instability is the molecular basis of D-bifunctional protein deficiency type III.
Specific combination of compound heterozygous mutations in 17beta-hydroxysteroid dehydrogenase (show HSD17B7 Antibodies) type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.
Molecular models of domain structure of MFE-2 from human, C. elegans, and Drosophila melanogaster lend support to possible structural role of MFE-2 domains including SCP (show RAG1AP1 Antibodies)-2L (sterol carrier protein 2 (show SCP2 Antibodies)-like) domain in human and C. elegans proteins.
Epistasis between the HSD17B4 and thyroglobulin (show TG Antibodies) polymorphisms is associated with premature ovarian failure. A haplotype in the HSD17B4 gene was identified that was significantly associated with resistance to POF (show POF1B Antibodies)
The diagnosis of a type III DBPD with a missense mutation (T15A) in the HSD17B4 gene, coding for D-bifunctional protein (DBP), could be established.
MFE2 anchors its substrate around the region from Trp(249) to Arg(251) and positions the substrate along the hydrophobic cavity in the proper direction toward the catalytic center
Perrault syndrome and DBP (show GC Antibodies) deficiency overlap clinically and Perrault syndrome is genetically heterogeneous.
rs11205 in HSD17B4 was associated with testicular germ cell tumor. Risk doubled per copy of the minor A allele. Homozygosity of this allele quadrupled the risk vs. homozygous major G allele. The risk was increased both for seminoma & nonseminoma.
crystal structure of 2-enoyl-CoA hydratase 2
Peroxisomal multifunctional protein-2 deficiency causes neuroinflammation and degeneration of Purkinje cells independent of very long chain fatty acid accumulation in mice.
bile acid biosynthesis, estimated by the ratio of C27/C24-bile acids, is more severely affected in double knock-out mice as compared with DBP (show GC Antibodies)-/- mice but was normal in LBP (show LBP Antibodies)-/- mice
Peroxisomal multifunctional protein 2 is essential for lipid homeostasis in Sertoli cells and male fertility
Loss of MFP2 leads to attenuation of up-regulations of SREBP2 (show SREBF2 Antibodies) and HMGCR (show HMGCR Antibodies) involved in cholesterol synthesis.
Leptin (show LEP Antibodies) in elevated doses, by stimulatory effect on CYP11A1 (show CYP11A1 Antibodies) and 17b-HSD (show HAL Antibodies) protein expression resulting in elevated P(4) and testosterone secretions could be an independent risk factor for cyst formation in both prepubertal and cycling pigs.
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.
peroxisomal multifunctional enzyme type 2
, 17-beta-HSD 4
, 17-beta-HSD IV
, 17-beta-hydroxysteroid dehydrogenase 4
, 17beta-estradiol dehydrogenase type IV
, 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase
, D-3-hydroxyacyl-CoA dehydratase
, D-bifunctional protein, peroxisomal
, beta-hydroxyacyl dehydrogenase
, multifunctional protein 2
, peroxisomal multifunctional protein 2
, short chain dehydrogenase/reductase family 8C, member 1
, D-bifunctional protein
, peroxisomal multifunctional enzyme type II
, 17-beta-hydroxysteroid dehydrogenase type IV
, 17beta-estradiol dehydrogenase
, mutifunctional protein2