Property Summary

NCBI Gene PubMed Count 52
PubMed Score 160.24
PubTator Score 118.06

Knowledge Summary

Patent

No data available

Expression

 OMIM Phenotype (1)

Protein-protein Interaction (9)

Gene RIF (42)

PMID Text
26288822 DHCR24 auto-antibody represents a potential noninvasive biomarker for hepatitis C virus-related liver disease and may facilitate the diagnosis of PIVKA-II and AFP-negative hepatocellular carcinoma.
25637936 physical and functional interaction between DHCR24 and DHCR7
24916565 Data (including data from studies using RNA from post-mortem brain tissue) suggest that expression of DHCR24 is up-regulated in parietal cortex of patients with Huntington's disease as compared to control subjects.
24562935 In vitro experiments showed that DHCR24 overexpression induced tumor proliferation.
24489783 DHCR24 expression protects neuronal cells from apoptotic cell death induced by endoplasmic reticulum stress.
24363437 Data indicate a mechanism whereby 3beta-hydroxysterol Delta24-reductase (DHCR24) activity is regulated by signaling.
23416078 TR-beta and LXR-alpha competitively up-regulate the human Seladin-1 promoter, sharing the same response element, site A.
23123430 Inflammation is inhibited in coronary artery endothlial cells by increasing 3beta-hydroxysteroid-Delta24 reductase expression.
23050906 DHCR24 gene expression is regulation by cholesterol availability.
22910610 a gender dependent effect of DHCR24 rs600491 polymorphism on the susceptibility to Alzheimer disease.
22431021 Activation of Sp1 by oxidative stress is involved in the promotion of expression of DHCR24 by Hepatitis C virus.
22190034 HIV-1 gp160 is identified to have a physical interaction with 24-dehydrocholesterol reductase (DHCR24) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses
22178193 a novel role for 24,25EC in cholesterol homeostasis, through its rapid inhibition of cholesterol synthesis at DHCR24.
22010141 DHCR24-overexpressed cells were protected from apoptosis in response to oxidative stress, which was accompanied by a decrease in DHCR24 content on the ER and activation of caspase-3.
21987590 This study describes Simvastatin modulates the Alzheimer's disease-related gene seladin-1.
21901424 Level of brain amyloid deposition on [(11)C]PiB PET was associated with rs7551288, an intronic SNP in DHCR24, in 103 participants. The minor allele was associated with lower PiB uptake with non-carriers showing higher PiB uptake in frontal regions.
21559050 affected individuals have a homozygous missense mutation in DHCR24 leading to dramatically augmented plasma desmosterol levels. We thus establish a clear consistent phenotype of desmosterolosis (MIM 602398).
20689807 Observational study of gene-disease association. (HuGE Navigator)
20634891 Observational study of gene-disease association. (HuGE Navigator)
20568014 DNA methylation and histone acetylation have roles in regulating the promoter region of the human DHCR24 gene
20465827 Promoter methylation could be involved in the altered pattern of seladin-1 gene expression in adrenal carcinoma.
20166102 Seladin-1 involvement in proliferation and secretion suggests that its downregulation may be a major mechanism causing prostate cancer evolution.
20061631 Reduced expression of the enzyme that converts desmosterol into cholesterol, Alzheimer indicator 1 gene (seladin-1/dhcr24), in cortex and cerebellum may underlie increased desmosterol levels in 21 month-old amyloid-beta mutant mice.
19861417 DHCR24 is elevated in response to HCV infection and inhibits the p53 stress response by stimulating the accumulation of the MDM2-p53 complex in the cytoplasm and by inhibiting the acetylation of p53 in the nucleus.
19815556 seladin-1 downregulation increases BACE1 levels and activity through enhanced GGA3 depletion during apoptosis
19520779 seladin-1 expression and intracellular localization are correlated with both the intensity and nature of ACTH-induced steroidogenesis and resultant oxidative stress.
19336370 Observational study of gene-disease association. (HuGE Navigator)
19325144 Results suggest that antiinflammatory effects of HDLs are mediated partly through an upregulation of DHCR24.
18815215 Seladin-1/DHCR24 is an LXR target gene and that LXR may regulate lipid raft formation.
18762779 the seladin-1 gene is androgen regulated and has a higher level of expression in prostate cancer tissues compared to the normal prostate
18660489 Observational study of gene-disease association. (HuGE Navigator)
18499757 Seladin-1 may be considered a fundamental mediator of the neuroprotective effects of estrogen.
18194465 DHCR24 protects neuroblastoma cells against Abeta toxicity by increasing membrane cholesterol content.
17984220 ablation of DHCR24/seladin-1 prevented apoptosis of primary neurons in a p53-dependent manner
17855807 Observational study of gene-disease association. (HuGE Navigator)
17579359 Preliminary results suggest the absence of an association between DHCR24/seladin-1 genotypes and Alzheimer's disease in the Italian population.
17510943 DHCR24 gene may be associated with Alzheimer's disease risk.
16762343 These original results demonstrate for the first time that seladin-1 is abundantly expressed by stem cells and appear to suggest that reduced expression in AD might be due to an altered pool of multipotent cells.
15954227 seladin-1 has been isolated and found to be down-regulated in brain regions affected by Alzheimer disease--REVIEW
15688385 High levels of DHCR24 gene expression is associated with melanoma metastases
15577914 unanticipated role for Seladin-1, previously implicated in Alzheimer's disease and cholesterol metabolism, in integrating cellular response to oncogenic and oxidative stress
15001630 seladin-1/DHCR24 is modulated by the ACTH/cAMP-driven pathway and its expression is reduced in adrenal cancer

AA Sequence

MEPAVSLAVCALLFLLWVRLKGLEFVLIHQRWVFVCLFLLPLSLIFDIYYYVRAWVVFKLSSAPRLHEQR      1 - 70
VRDIQKQVREWKEQGSKTFMCTGRPGWLTVSLRVGKYKKTHKNIMINLMDILEVDTKKQIVRVEPLVTMG     71 - 140
QVTALLTSIGWTLPVLPELDDLTVGGLIMGTGIESSSHKYGLFQHICTAYELVLADGSFVRCTPSENSDL    141 - 210
FYAVPWSCGTLGFLVAAEIRIIPAKKYVKLRFEPVRGLEAICAKFTHESQRQENHFVEGLLYSLDEAVIM    211 - 280
TGVMTDEAEPSKLNSIGNYYKPWFFKHVENYLKTNREGLEYIPLRHYYHRHTRSIFWELQDIIPFGNNPI    281 - 350
FRYLFGWMVPPKISLLKLTQGETLRKLYEQHHVVQDMLVPMKCLQQALHTFQNDIHVYPIWLCPFILPSQ    351 - 420
PGLVHPKGNEAELYIDIGAYGEPRVKHFEARSCMRQLEKFVRSVHGFQMLYADCYMNREEFWEMFDGSLY    421 - 490
HKLREKLGCQDAFPEVYDKICKAARH                                                491 - 516
//

Text Mined References (57)

PMID Year Title
26288822 2015 Serum DHCR24 Auto-antibody as a new Biomarker for Progression of Hepatitis C.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25637936 2015 The terminal enzymes of cholesterol synthesis, DHCR24 and DHCR7, interact physically and functionally.
24916565 2014 Altered expression of 3-betahydroxysterol delta-24-reductase/selective Alzheimer's disease indicator-1 gene in Huntington's disease models.
24562935 2014 DHCR24 is an independent predictor of progression in patients with non-muscle-invasive urothelial carcinoma, and its functional role is involved in the aggressive properties of urothelial carcinoma cells.
24489783 2014 3 ?-hydroxysteroid-? 24 reductase (DHCR24) protects neuronal cells from apoptotic cell death induced by endoplasmic reticulum (ER) stress.
24363437 2014 Signaling regulates activity of DHCR24, the final enzyme in cholesterol synthesis.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23416078 2013 Thyroid hormone receptor and liver X receptor competitively up-regulate human selective Alzheimer's disease indicator-1 gene expression at the transcriptional levels.
23123430 2013 High-density lipoproteins inhibit vascular endothelial inflammation by increasing 3?-hydroxysteroid-?24 reductase expression and inducing heme oxygenase-1.
23050906 2012 Promoter analysis of the DHCR24 (3?-hydroxysterol ?(24)-reductase) gene: characterization of SREBP (sterol-regulatory-element-binding protein)-mediated activation.
22910610 2012 Gender dependent effect of DHCR24 polymorphism on the risk for Alzheimer's disease.
22431021 2012 Hepatitis C virus promotes expression of the 3?-hydroxysterol ?24-reductase through Sp1.
22178193 2012 The endogenous regulator 24(S),25-epoxycholesterol inhibits cholesterol synthesis at DHCR24 (Seladin-1).
22010141 2012 The membrane topological analysis of 3?-hydroxysteroid-Delta24 reductase (DHCR24) on endoplasmic reticulum.
21987590 2012 Simvastatin modulates the Alzheimer's disease-related gene seladin-1.
21901424 2012 Amyloid pathway-based candidate gene analysis of [(11)C]PiB-PET in the Alzheimer's Disease Neuroimaging Initiative (ADNI) cohort.
21559050 2011 The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter.
21269460 2011 Initial characterization of the human central proteome.
20689807 2010 Genetic variation and antioxidant response gene expression in the bronchial airway epithelium of smokers at risk for lung cancer.
20634891 2010 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
20568014 2011 Identification and analysis of the promoter region of the human DHCR24 gene: involvement of DNA methylation and histone acetylation.
20465827 2010 Seladin-1 expression is regulated by promoter methylation in adrenal cancer.
20166102 2010 Inhibition of DHCR24/seladin-1 impairs cellular homeostasis in prostate cancer.
20061631 2010 Alterations in brain cholesterol metabolism in the APPSLxPS1mut mouse, a model for Alzheimer's disease.
19946888 2010 Defining the membrane proteome of NK cells.
19861417 2009 Hepatitis C virus impairs p53 via persistent overexpression of 3beta-hydroxysterol Delta24-reductase.
19815556 2009 Down-regulation of seladin-1 increases BACE1 levels and activity through enhanced GGA3 depletion during apoptosis.
19520779 2009 24-dehydrocholesterol reductase/seladin-1: a key protein differentially involved in adrenocorticotropin effects observed in human and rat adrenal cortex.
19336370 2009 Determination of genetic predisposition to patent ductus arteriosus in preterm infants.
19325144 2009 Role of 3beta-hydroxysteroid-delta 24 reductase in mediating antiinflammatory effects of high-density lipoproteins in endothelial cells.
18815215 2008 The selective Alzheimer's disease indicator-1 gene (Seladin-1/DHCR24) is a liver X receptor target gene.
18762779 2008 Androgen receptor regulation of the seladin-1/DHCR24 gene: altered expression in prostate cancer.
18660489 2008 Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.
18499757 2008 Seladin-1 is a fundamental mediator of the neuroprotective effects of estrogen in human neuroblast long-term cell cultures.
18194465 2008 Seladin-1/DHCR24 protects neuroblastoma cells against Abeta toxicity by increasing membrane cholesterol content.
17984220 2008 Prosurvival effect of DHCR24/Seladin-1 in acute and chronic responses to oxidative stress.
17855807 2007 Maternal and fetal variation in genes of cholesterol metabolism is associated with preterm delivery.
17579359 2008 Mutational screening analysis of DHCR24/seladin-1 gene in Italian familial Alzheimer's disease.
17510943 2007 The association study between DHCR24 polymorphisms and Alzheimer's disease.
16762343 2006 Neuronal differentiation of human mesenchymal stem cells: changes in the expression of the Alzheimer's disease-related gene seladin-1.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16407971 2006 The role of seladin-1/DHCR24 in cholesterol biosynthesis, APP processing and Abeta generation in vivo.
15954227 2005 Seladin-1 as a target of estrogen receptor activation in the brain: a new gene for a rather old story?
15688385 2005 DHCR24 gene expression is upregulated in melanoma metastases and associated to resistance to oxidative stress-induced apoptosis.
15577914 2004 Regulation of cellular response to oncogenic and oxidative stress by Seladin-1.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
15001630 2004 Expression of the novel adrenocorticotropin-responsive gene selective Alzheimer's disease indicator-1 in the normal adrenal cortex and in adrenocortical adenomas and carcinomas.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12457401 2002 Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay.
11519011 2001 Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis.
11007892 2000 The human DIMINUTO/DWARF1 homolog seladin-1 confers resistance to Alzheimer's disease-associated neurodegeneration and oxidative stress.
7584028 1994 Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1 (supplement).
7584026 1994 Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1.
4359325 1974 Restoration of the conversion of desmosterol to cholesterol in L-cells after hybridization with human fibroblasts.