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Synonyms
lamin b receptor, erg24, tm7sf2, 14-reductase, sterol c-14 reductase, dhcr14, c14sr, fackel, delta14-reductase, fk-j3158,
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14-dehydrocholesterol reductase
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3beta-hydroxysterol DELTA14-reductase
C-14 sterol reductase
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DELTA14-reductase
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DELTA7,14-steroid 14-reductase
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DELTA7,14-sterol 14-reductase
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DELTA7,14-sterol DELTA14-reductase
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DELTA7,14-sterol-14-reductase
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DELTA8,14-hydroxy steroid DELTA14(15)-reductase
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DELTA8,14-steroid 14-reductase
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DELTA8,14-sterol 14-reductase
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DELTA8,14-sterol DELTA14-reductase
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DELTA8,14-sterol-14-reductase
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reductase, DELTA8,14-hydroxy steroid DELTA14(15)-
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sterol 14-reductase
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sterol C14-reductase
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sterol DELTA14,15-reductase
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sterol DELTA14-reductase
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3beta-hydroxysterol DELTA14-reductase
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besides the endoplasmic reticulum 3beta-hydroxysterol DELTA14-reductase (C14SR) encoded by TM7SF2 gene, the lamin B receptor (LBR) of the inner nuclear membrane possesses 3beta-hydroxysterol DELTA14-reductase activity
3beta-hydroxysterol DELTA14-reductase
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sterol C-14 reductase
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sterol C-14 reductase
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4,4-dimethyl-5alpha-cholesta-8,24-dien-3beta-ol + NADP+
4,4-dimethyl-5alpha-cholesta-8,14,24-trien-3beta-ol + NADPH + H+
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dihydro-follicular fluid meiosis-activating sterol + NADPH + H+
dihydro-testis meiosis-activating sterol + NADP+
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follicular fluid meiosis-activating sterol + NADPH + H+
testis meiosis-activating sterol + NADP+
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4,4-dimethyl-5alpha-cholesta-8,14,24-trien-3beta-ol + NADPH
4,4-dimethyl-5alpha-cholesta-8,24-dien-3beta-ol + NADP+
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4,4-dimethyl-5alpha-cholesta-8,14-dien-3beta-ol + NADPH
4,4-dimethyl-5alpha-cholesta-8-en-3beta-ol + NADP+
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4,4-dimethyl-5alpha-cholesta-8,24-dien-3beta-ol + NADP+
4,4-dimethyl-5alpha-cholesta-8,14,24-trien-3beta-ol + NADPH + H+
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5alpha-cholesta-8,14-dien-3beta-ol + NADPH
5alpha-cholesta-8-en-3beta-ol + NADP+
5alpha-cholesta-8,14-dien-3beta-ol + NADPH + H+
5alpha-cholesta-8-en-3beta-ol + NADP+
dihydro-follicular fluid meiosis-activating sterol + NADPH + H+
dihydro-testis meiosis-activating sterol + NADP+
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follicular fluid meiosis-activating sterol + NADPH + H+
testis meiosis-activating sterol + NADP+
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additional information
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5alpha-cholesta-8,14-dien-3beta-ol + NADPH
5alpha-cholesta-8-en-3beta-ol + NADP+
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5alpha-cholesta-8,14-dien-3beta-ol + NADPH
5alpha-cholesta-8-en-3beta-ol + NADP+
the substrate accumulates in patients suffering autosomal recessive HEM/Greenberg skeletal dysplasia
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5alpha-cholesta-8,14-dien-3beta-ol + NADPH + H+
5alpha-cholesta-8-en-3beta-ol + NADP+
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LBR
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5alpha-cholesta-8,14-dien-3beta-ol + NADPH + H+
5alpha-cholesta-8-en-3beta-ol + NADP+
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TM7SF2
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additional information
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enzyme acts on a range of steroids with a 14(15)-double bond
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additional information
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14-reductase has a important regulatory role in the overall cholesterol synthetic pathway
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additional information
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important essential enzyme of cholesterol biosynthesis from lanosterol
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additional information
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enzyme plays a key role in sterol biosynthesis, sterol content in vivo
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additional information
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enzyme-deficiency causes the lethal autosomal recessive HEM/Greenberg skeletal dysplasia, characterized by short limbs, fetal hydrops, abnormal chondro-osseous calcification
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additional information
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enzyme-deficiency causes the lethal autosomal recessive HEM/Greenberg skeletal dysplasia, characterized by short limbs, fetal hydrops, abnormal chondro-osseous calcification
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additional information
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enzyme-deficiency causes the lethal autosomal recessive HEM/Greenberg skeletal dysplasia, characterized by short limbs, fetal hydrops, abnormal chondro-osseous calcification
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additional information
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C14SR is encoded by the TM7SF2 gene. TM7SF2 but not LBR, gene expression is regulated by cell sterol levels in HepG2 (human) and H-35 (rat) hepatoma cells. Primary role of C14SR in human cholesterol biosynthesis
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additional information
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role of LBR in the cholesterol biosynthesis pathway is unclear
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4,4-dimethyl-5alpha-cholesta-8,24-dien-3beta-ol + NADP+
4,4-dimethyl-5alpha-cholesta-8,14,24-trien-3beta-ol + NADPH + H+
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4,4-dimethyl-5alpha-cholesta-8,24-dien-3beta-ol + NADP+
4,4-dimethyl-5alpha-cholesta-8,14,24-trien-3beta-ol + NADPH + H+
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5alpha-cholesta-8,14-dien-3beta-ol + NADPH
5alpha-cholesta-8-en-3beta-ol + NADP+
the substrate accumulates in patients suffering autosomal recessive HEM/Greenberg skeletal dysplasia
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additional information
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additional information
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14-reductase has a important regulatory role in the overall cholesterol synthetic pathway
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?
additional information
?
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important essential enzyme of cholesterol biosynthesis from lanosterol
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?
additional information
?
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enzyme plays a key role in sterol biosynthesis, sterol content in vivo
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?
additional information
?
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enzyme-deficiency causes the lethal autosomal recessive HEM/Greenberg skeletal dysplasia, characterized by short limbs, fetal hydrops, abnormal chondro-osseous calcification
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?
additional information
?
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enzyme-deficiency causes the lethal autosomal recessive HEM/Greenberg skeletal dysplasia, characterized by short limbs, fetal hydrops, abnormal chondro-osseous calcification
-
-
?
additional information
?
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enzyme-deficiency causes the lethal autosomal recessive HEM/Greenberg skeletal dysplasia, characterized by short limbs, fetal hydrops, abnormal chondro-osseous calcification
-
-
?
additional information
?
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C14SR is encoded by the TM7SF2 gene. TM7SF2 but not LBR, gene expression is regulated by cell sterol levels in HepG2 (human) and H-35 (rat) hepatoma cells. Primary role of C14SR in human cholesterol biosynthesis
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additional information
?
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role of LBR in the cholesterol biosynthesis pathway is unclear
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Acute Kidney Injury
The Tm7sf2 Gene Deficiency Protects Mice against Endotoxin-Induced Acute Kidney Injury.
Adenoma
Differential gene expression profiling of aggressive and nonaggressive follicular carcinomas.
Alzheimer Disease
Quantitation of glycogen synthase kinase-3 sensitive proteins in neuronal membrane rafts.
Bone Diseases, Developmental
A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley-Kendall dysplasia are allelic disorders.
Breast Neoplasms
Spatiotemporal Mislocalization of Nuclear Membrane-Associated Proteins in ?-Irradiation-Induced Senescent Cells.
Breast Neoplasms
The clinicopathological significance of lamin A/C, lamin B1 and lamin B receptor mRNA expression in human breast cancer.
Candidiasis
ERG2 and ERG24 Are Required for Normal Vacuolar Physiology as Well as Candida albicans Pathogenicity in a Murine Model of Disseminated but Not Vaginal Candidiasis.
Carcinoma
Differential gene expression profiling of aggressive and nonaggressive follicular carcinomas.
Carcinoma
Distinct cellular responses to replication stress leading to apoptosis or senescence.
Carcinoma
Spatiotemporal Mislocalization of Nuclear Membrane-Associated Proteins in ?-Irradiation-Induced Senescent Cells.
Chondrodysplasia Punctata
Genetic disorders of cholesterol biosynthesis in mice and humans.
Colonic Neoplasms
Comprehensive analysis of metastasis-related genes reveals a gene signature predicting the survival of colon cancer patients.
delta14-sterol reductase deficiency
Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene.
delta14-sterol reductase deficiency
HEM dysplasia and ichthyosis are likely laminopathies and not due to 3beta-hydroxysterol Delta14-reductase deficiency.
delta14-sterol reductase deficiency
Impaired cell proliferation in regenerating liver of 3 ?-hydroxysterol ?14-reductase (TM7SF2) knock-out mice.
Herpes Simplex
A three-residue signal confers localization of a reporter protein in the inner nuclear membrane.
Herpes Simplex
Fate of the inner nuclear membrane protein lamin B receptor and nuclear lamins in herpes simplex virus type 1 infection.
Ichthyosis
HEM dysplasia and ichthyosis are likely laminopathies and not due to 3beta-hydroxysterol Delta14-reductase deficiency.
Ichthyosis
Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huët anomaly.
Infections
Characterization of lamin B receptor of Sf9 cells and its fate during Autographa californica nucleopolyhedrovirus infection.
Infections
Fate of the inner nuclear membrane protein lamin B receptor and nuclear lamins in herpes simplex virus type 1 infection.
Insulin Resistance
Tm7sf2 Disruption Alters Radial Gene Positioning in Mouse Liver Leading to Metabolic Defects and Diabetes Characteristics.
Insulin Resistance
Tm7sf2 gene promotes adipocyte differentiation of mouse embryonic fibroblasts and improves insulin sensitivity.
Laminopathies
HEM dysplasia and ichthyosis are likely laminopathies and not due to 3beta-hydroxysterol Delta14-reductase deficiency.
Laminopathies
LMNA, ZMPSTE24, and LBR are not mutated in scleroderma.
Leukemia
Antinuclear antibodies as ancillary markers in primary biliary cirrhosis.
Leukemia
Molecular diagnostics of primary biliary cirrhosis.
Liver Cirrhosis, Biliary
Autoantibodies from patients with primary biliary cirrhosis recognize a region within the nucleoplasmic domain of inner nuclear membrane protein LBR.
Liver Cirrhosis, Biliary
Identification and characterization of autoantibodies against the nuclear envelope lamin B receptor from patients with primary biliary cirrhosis.
Melanoma
Discovery of key genes as novel biomarkers specifically associated with HPV-negative cervical cancer.
Metabolism, Inborn Errors
Genetic disorders of cholesterol biosynthesis in mice and humans.
Mevalonate Kinase Deficiency
Genetic disorders of cholesterol biosynthesis in mice and humans.
Neoplasms
Candidate diagnostic markers and tumor suppressor genes for adrenocortical carcinoma by expression profile of genes on chromosome 11q13.
Neoplasms
Differential gene expression profiling of aggressive and nonaggressive follicular carcinomas.
Neoplasms
Loss of lamin B receptor is necessary to induce cellular senescence.
Osteosarcoma
Spatiotemporal Mislocalization of Nuclear Membrane-Associated Proteins in ?-Irradiation-Induced Senescent Cells.
Papilloma
The loss of Tm7sf gene accelerates skin papilloma formation in mice.
Pelger-Huet Anomaly
Alterations in nuclear structure promote lupus autoimmunity in a mouse model.
Pelger-Huet Anomaly
Mouse neutrophils lacking lamin B-receptor expression exhibit aberrant development and lack critical functional responses.
Pelger-Huet Anomaly
Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huët anomaly.
Renal Insufficiency
The Tm7sf2 Gene Deficiency Protects Mice against Endotoxin-Induced Acute Kidney Injury.
Scleroderma, Systemic
LMNA, ZMPSTE24, and LBR are not mutated in scleroderma.
Uterine Cervical Neoplasms
Discovery of key genes as novel biomarkers specifically associated with HPV-negative cervical cancer.
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a Neurospora crassa enzyme-deficient erg-3 mutant strain mat a and a yeast erg-4 mutant strain AP2 cannot be complemented by expression of 6 chimeric enzyme mutants variants constructed from the enzyme encoded by gene TM7SF2 and the Neurospora crassa gene erg-3 encoded enzyme
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DNA and amino acid sequence determination and analysis of 2 mutants, i.e. TM7SF2 and LBR, with autosomal recessive HEM/Greenberg skeletal dysplasia expressing a defective, truncated enzyme
expression of LBR in COS-1 cells
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gene TM7SF2, promoter analysis, the promoter contains a 5'-ATTGG-3' sequence, an inverted CCAAT-box, 14 bp upstream the -73/-64 SRE-like motif, and is a region responsible for promoter regulation by sterols and by coexpressed SREBP-2, expression analysis, overview
TM7SF2 expression in COS-1 cells
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TM7SF2 gene corresponds to DELTA14-SR, sterol DELTA14-reductase
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Roberti, R.; Bennati, A.M.; Galli, G.; Caruso, D.; Maras, B.; Aisa, C.; Beccari, T.; Della Fazia, M.A.; Servillo, G.
Cloning and expression of sterol DELTA14-reductase from bovine liver
Eur. J. Biochem.
269
283-290
2002
Bos taurus, Homo sapiens
brenda
Waterham, H.R.; Koster, J.; Mooyer, P.; Noort Gv, G.; Kelley, R.I.; Wilcox, W.R.; Wanders, R.J.; Hennekam, R.C.; Oosterwijk, J.C.
Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3beta-hydroxysterol DELTA14-reductase deficiency due to mutations in the lamin B receptor gene
Am. J. Hum. Genet.
72
1013-1017
2003
Homo sapiens (O76062), Homo sapiens (Q14739), Homo sapiens
brenda
Prakash, A.; Kasbekar, D.P.
Genes encoding chimeras of Neurospora crassa erg-3 and human TM7SF2 proteins fail to complement Neurospora and yeast sterol C-14 reductase mutants
J. Biosci.
27
105-112
2002
Homo sapiens, Neurospora crassa
brenda
Bennati, A.M.; Castelli, M.; Della Fazia, M.A.; Beccari, T.; Caruso, D.; Servillo, G.; Roberti, R.
Sterol dependent regulation of human TM7SF2 gene expression: role of the encoded 3beta-hydroxysterol DELTA14-reductase in human cholesterol biosynthesis
Biochim. Biophys. Acta
1761
677-685
2006
Homo sapiens
brenda
Schiavoni, G.; Bennati, A.M.; Castelli, M.; Fazia, M.A.; Beccari, T.; Servillo, G.; Roberti, R.
Activation of TM7SF2 promoter by SREBP-2 depends on a new sterol regulatory element, a GC-box, and an inverted CCAAT-box
Biochim. Biophys. Acta
1801
587-592
2010
Homo sapiens (O76062)
brenda
Capell-Hattam, I.M.; Sharpe, L.J.; Qian, L.; Hart-Smith, G.; Prabhu, A.V.; Brown, A.J.
Twin enzymes, divergent control The cholesterogenic enzymes DHCR14 and LBR are differentially regulated transcriptionally and post-translationally
J. Biol. Chem.
295
2850-2865
2020
Homo sapiens (O76062), Homo sapiens (Q14739), Homo sapiens
brenda