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The knockdown of dbp (show GC ELISA Kits) 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 ELISA Kits)-2L (sterol carrier protein 2 (show SCP2 ELISA Kits)-like) domain in human and C. elegans proteins.
we identified that methylation of the promoter CpG island of HSD17B4 was associated with the pathological complete response of HER2 (show ERBB2 ELISA Kits)-positive breast cancer to trastuzumab and chemotherapy with a specificity of 79%
Our findings supported that HSD17B4 was one of the genes contributing to Perrault syndrome in this consanguineous Chinese Han family.
ere we present eight families affected by Perrault syndrome. In five families we identified novel or previously reported variants in HSD17B4, LARS2 (show LARS2 ELISA Kits), CLPP (show CLPP ELISA Kits) and C10orf2 (show C10ORF2 ELISA Kits)
Results show that HSD17B4 is highly expressed in hepatocellular carcinoma (HCC (show FAM126A ELISA Kits)) cells and activated NF-kappaB (show NFKB1 ELISA Kits) co-localized with the NF-kappaB (show NFKB1 ELISA Kits)-responsive element of HSD17B4 suggesting that HSD17B4 plays an important role in aggravated HCC (show FAM126A ELISA Kits) 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 ELISA Kits) 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 ELISA Kits)-2L (sterol carrier protein 2 (show SCP2 ELISA Kits)-like) domain in human and C. elegans proteins.
Epistasis between the HSD17B4 and thyroglobulin (show TG ELISA Kits) 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 ELISA Kits)
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 (show TBPL1 ELISA Kits)(249) to Arg(251) and positions the substrate along the hydrophobic cavity in the proper direction toward the catalytic center
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 ELISA Kits)-/- mice but was normal in LBP (show LBP ELISA Kits)-/- 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 ELISA Kits) and HMGCR (show HMGCR ELISA Kits) involved in cholesterol synthesis.
Leptin (show LEP ELISA Kits) in elevated doses, by stimulatory effect on CYP11A1 (show CYP11A1 ELISA Kits) and 17b-HSD (show HAL ELISA Kits) 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