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1.3.1.70: DELTA14-sterol reductase

This is an abbreviated version!
For detailed information about DELTA14-sterol reductase, go to the full flat file.

Word Map on EC 1.3.1.70

Reaction

4,4-dimethyl-5alpha-cholesta-8,24-dien-3beta-ol
+
NADP+
=
4,4-dimethyl-5alpha-cholesta-8,14,24-trien-3beta-ol
+
NADPH
+
H+

Synonyms

14-dehydrocholesterol reductase, 14-reductase, 14-SR, 3 beta-hydroxysterol-DELTA14-reductase, 3beta-hydroxysterol DELTA14-reductase, C-14 reductase, C-14 sterol reductase, C14-SR, C14-sterol reductase, C14SR, DELTA14-reductase, DELTA14-SR, DELTA14SR, DELTA7,14-steroid 14-reductase, DELTA7,14-sterol 14-reductase, DELTA7,14-sterol DELTA14-reductase, DELTA7,14-sterol-14-reductase, DELTA8,14-hydroxy steroid DELTA14(15)-reductase, DELTA8,14-steroid 14-reductase, DELTA8,14-sterol 14-reductase, DELTA8,14-sterol DELTA14-reductase, DELTA8,14-sterol-14-reductase, DHCR14, ERG 24, ERG24, erg24-1, erg24A, erg24B, fackel, FACKEL protein, FgERG24A, FgERG24B, FK, fk-J3158, integral membrane sterol reductase, lamin B receptor, lamin-B receptor, LBR, MaSR1, reductase, DELTA8,14-hydroxy steroid DELTA14(15)-, SR-1, sterol 14-reductase, sterol C-14 reductase, sterol C14-reductase, sterol DELTA14,15-reductase, sterol DELTA14-reductase, TM7SF2

ECTree

     1 Oxidoreductases
         1.3 Acting on the CH-CH group of donors
             1.3.1 With NAD+ or NADP+ as acceptor
                1.3.1.70 DELTA14-sterol reductase

Disease

Disease on EC 1.3.1.70 - DELTA14-sterol reductase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
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.
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.
Distinct cellular responses to replication stress leading to apoptosis or senescence.
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.
HEM dysplasia and ichthyosis are likely laminopathies and not due to 3beta-hydroxysterol Delta14-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.
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.
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.
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.
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.
LMNA, ZMPSTE24, and LBR are not mutated in scleroderma.
Leukemia
Antinuclear antibodies as ancillary markers in primary biliary cirrhosis.
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.
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.
Differential gene expression profiling of aggressive and nonaggressive follicular carcinomas.
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.
Mouse neutrophils lacking lamin B-receptor expression exhibit aberrant development and lack critical functional responses.
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.