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Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7

HSD3B7, C(27) 3beta-HSD
This gene encodes an enzyme which is involved in the initial stages of the synthesis of bile acids from cholesterol and a member of the short-chain dehydrogenase/reductase superfamily. The encoded protein is a membrane-associated endoplasmic reticulum protein which is active against 7-alpha hydrosylated sterol substrates. Mutations in this gene are associated with a congenital bile acid synthesis defect which leads to neonatal cholestasis, a form of progressive liver disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] (from NCBI)
Top mentioned proteins: ACID, CAN, fibrillin-1, HAD, oxidoreductase
Papers on HSD3B7
Genetic Variants in MicroRNAs and their Binding Sites are Associated with the Risk of Parkinson Disease.
Dehghan et al., Rotterdam, Netherlands. In Hum Mutat, Jan 2016
Four of the host genes, CTSB, STX1B, IGSF9B and HSD3B7, had not previously been reported to be associated with PD.
Tandem mass spectrometric determination of atypical 3β-hydroxy-Δ5-bile acids in patients with 3β-hydroxy-Δ5-C27-steroid oxidoreductase deficiency: application to diagnosis and monitoring of bile acid therapeutic response.
Setchell et al., Perugia, Italy. In Clin Chem, Jul 2015
BACKGROUND: 3β-Hydroxy-Δ(5)-C27-steroid oxidoreductase (HSD3B7) deficiency, a progressive cholestatic liver disease, is the most common genetic defect in bile acid synthesis.
[Infant with 3β-hydroxy-Δ(5)-C27 steroid dehydrogenase deficiency: report of two cases and literatures review].
Wang et al., Wuhan, China. In Zhonghua Er Ke Za Zhi, May 2015
Both patients were confirmed by HSD3B7 gene mutation analysis.
Synthesis of atypical bile acids for use as investigative tools for the genetic defect of 3β-hydroxy-Δ(5)-C27-steroid oxidoreductase deficiency.
Setchell et al., Perugia, Italy. In J Steroid Biochem Mol Biol, 2014
Deficiency of 3β-hydroxy-Δ(5)-C27-steroid oxidoreductase (HSD3B7), an enzyme catalyzing the second step in the pathway for bile acid synthesis, leads to a complete lack of the primary bile acids, cholic and chenodeoxycholic acids, and the accumulation of 3β,7α-dihydroxy- and 3β,7α,12α-trihydroxy-Δ(5)-cholenoic acids.
[Clinical features of a Chinese infant with inborn error of bile acid metabolism-3β-hydroxy-Δ(5)-C27-steroid dehydrogenase deficiency and review of the literature].
Wang et al., Shanghai, China. In Zhonghua Er Ke Za Zhi, 2013
METHOD: Clinical features and treatment of one Chinese infant with 3β-hydroxy-Δ(5)-C27-steroid dehydrogenase deficiency confirmed by HSD3B7 gene mutation analysis were retrospectively reviewed, and 51 cases of 3β-hydroxy-Δ(5)-C27-steroid dehydrogenase deficiency who were internationally reported since 2000 were also reviewed in this paper.
Pathway analysis of genome-wide association studies for Parkinson's disease.
Lee et al., Seoul, South Korea. In Mol Biol Rep, 2013
ICSNPathway analysis identified three candidate SNPs, two genes, twenty-one pathways, and three hypothetical biological mechanisms: (1) rs17651549 to microtubule-associated protein tau (MAPT) to protein domain specific binding (nominal p < 0.001, false discovery rate (FDR) < 0.001), neurogenesis (nominal p < 0.001, FDR < 0.001), regulation of neurogenesis (nominal p < 0.001, FDR = 0.001), positive regulation of axonogenesis (nominal p < 0.001, FDR = 0.001), regulation of protein polymerization (nominal p < 0.001, FDR = 0.004), negative regulation of organelle organization (nominal p < 0.001, FDR = 0.004), hsa01510 (nominal p < 0.001, FDR = 0.005), neuron differentiation (nominal p < 0.001, FDR = 0.009), and axonogenesis (nominal p < 0.001, FDR = 0.009); (2) rs10445337 to MAPT to protein domain specific binding (nominal p < 0.001, FDR < 0.001), neurogenesis (nominal p < 0.001, FDR < 0.001), regulation of neurogenesis (nominal p < 0.001, FDR = 0.001), and positive regulation of axonogenesis (nominal p < 0.001, FDR = 0.001); (3) rs9938550 to HSD3B7 to hsa00363 (nominal p < 0.001, FDR = 0.004), bile acid metabolic process (nominal p = 0.005, FDR = 0.019), and steroid metabolic process (nominal p = 0.010, FDR = 0.039).
Oxysterol gradient generation by lymphoid stromal cells guides activated B cell movement during humoral responses.
Cyster et al., San Francisco, United States. In Immunity, 2012
7α,25-OHC is synthesized from cholesterol by the stepwise actions of two enzymes, CH25H and CYP7B1, and is metabolized to a 3-oxo derivative by HSD3B7.
Homozygosity mapping identifies a bile acid biosynthetic defect in an adult with cirrhosis of unknown etiology.
Hobbs et al., Dallas, United States. In Hepatology, 2012
Homozygosity mapping identifies a bile acid biosynthetic defect (3beta-HSD deficiency due to a frameshift mutation in HSD3B7) in an adult with cirrhosis of unknown etiology.
CTL recognition of a novel HLA-A*0201-binding peptide derived from glioblastoma multiforme tumor cells.
Lake et al., Tempe, United States. In Cancer Immunol Immunother, 2011
By eluting peptides from human glioblastoma multiforme (GBM) tumor cell surfaces and subjecting them to tandem mass spectrometry, we identified a novel peptide (KLWGLTPKVTPS) corresponding to a frameshift in the 3' beta-hydroxysteroid dehydrogenase type 7 (HSD3B7) gene.
Transcriptome dynamics and molecular cross-talk between bovine oocyte and its companion cumulus cells.
Tesfaye et al., Bonn, Germany. In Bmc Genomics, 2010
Of these, 320 and 246 are over expressed in CCs+OO and CCs-OO, respectively.While oocyte specific transcripts include those involved in transcription (IRF6, POU5F1, MYF5, MED18), translation (EIF2AK1, EIF4ENIF1) and CCs specific ones include those involved in carbohydrate metabolism (HYAL1, PFKL, PYGL, MPI), protein metabolic processes (IHH, APOA1, PLOD1), steroid biosynthetic process (APOA1, CYP11A1, HSD3B1, HSD3B7).
Molecular genetic and bile acid profiles in two Japanese patients with 3beta-hydroxy-DELTA5-C27-steroid dehydrogenase/isomerase deficiency.
Matsuishi et al., Kurume, Japan. In Pediatr Res, 2010
Mutations in the HSD3B7 gene account for autosomal recessive neonatal cholestasis caused by 3[beta]-hydroxy-[DELTA]5-C27-steroid dehydrogenase/isomerase deficiency.
Cerebrospinal fluid steroidomics: are bioactive bile acids present in brain?
Griffiths et al., Swansea, United Kingdom. In J Biol Chem, 2010
7Alpha-hydroxy-3-oxocholest-4-en-26-oic acid is formed from 3beta,7alpha-dihydroxycholest-5-en-26-oic acid in a reaction catalyzed by 3beta-hydroxy-Delta(5)-C(27)-steroid dehydrogenase (HSD3B7), which may thus represent a deactivation pathway of LXR ligands in brain.
Cholestatic liver disease in adults may be due to an inherited defect in bile acid biosynthesis.
Björkhem et al., Huddinge, Sweden. In J Intern Med, 2007
Electrospray mass spectrometry of urine showed predominance of unsaturated bile acids, characteristic of 3beta-hydroxy-Delta5-C27-steroid dehydrogenase/isomerase (HSD3B7) deficiency.
Analysis of HSD3B7 knockout mice reveals that a 3alpha-hydroxyl stereochemistry is required for bile acid function.
Russell et al., Dallas, United States. In Proc Natl Acad Sci U S A, 2007
Catalyzes two reactions required for inversion of the cholesterol 3beta-hydroxyl group to the 3alpha-hydroxyl of bile acids; its stereochemical alteration eliminates cholesterol absorption in the gut and enterohepatic circulation feedback regulation.
Molecular genetics of 3beta-hydroxy-Delta5-C27-steroid oxidoreductase deficiency in 16 patients with loss of bile acid synthesis and liver disease.
Russell et al., Dallas, United States. In J Clin Endocrinol Metab, 2003
The gene encoding the human C(27) 3beta-HSD enzyme was isolated previously, and a 2-bp deletion in exon 6 of HSD3B7 was identified in a well characterized subject with this disorder.
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