DHCR24 (24-dehydrocholesterol reductase)

2003-08-01  

Identity

HGNC
LOCATION
1p32.3
LOCUSID
ALIAS
DCE,Nbla03646,SELADIN1,seladin-1
FUSION GENES

Other Information

Locus ID:

NCBI: 1718
MIM: 606418
HGNC: 2859
Ensembl: ENSG00000116133

Variants:

dbSNP: 1718
ClinVar: 1718
TCGA: ENSG00000116133
COSMIC: DHCR24

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000116133ENST00000371269Q15392
ENSG00000116133ENST00000436604Q15392
ENSG00000116133ENST00000535035A0A0A0MTI1
ENSG00000116133ENST00000647912A0A3B3ISR5
ENSG00000116133ENST00000648182A0A3B3ITT9
ENSG00000116133ENST00000648728A0A3B3IRV7
ENSG00000116133ENST00000649769A0A3B3IRV7
ENSG00000116133ENST00000650362A0A3B3IT58

Expression (GTEx)

0
500
1000
1500
2000

Pathways

PathwaySourceExternal ID
Steroid biosynthesisKEGGko00100
Steroid biosynthesisKEGGhsa00100
Metabolic pathwaysKEGGhsa01100
Cholesterol biosynthesis, squalene 2,3-epoxide => cholesterolKEGGhsa_M00101
Cholesterol biosynthesis, squalene 2,3-epoxide => cholesterolKEGGM00101
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Cholesterol biosynthesisREACTOMER-HSA-191273
Cholesterol biosynthesis via desmosterolREACTOMER-HSA-6807047
Cholesterol biosynthesis via lathosterolREACTOMER-HSA-6807062

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
155779142004Regulation of cellular response to oncogenic and oxidative stress by Seladin-1.63
178558072007Maternal and fetal variation in genes of cholesterol metabolism is associated with preterm delivery.36
186604892008Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.26
179842202008Prosurvival effect of DHCR24/Seladin-1 in acute and chronic responses to oxidative stress.24
206898072010Genetic variation and antioxidant response gene expression in the bronchial airway epithelium of smokers at risk for lung cancer.23
156883852005DHCR24 gene expression is upregulated in melanoma metastases and associated to resistance to oxidative stress-induced apoptosis.22
193251442009Role of 3beta-hydroxysteroid-delta 24 reductase in mediating antiinflammatory effects of high-density lipoproteins in endothelial cells.22
198614172009Hepatitis C virus impairs p53 via persistent overexpression of 3beta-hydroxysterol Delta24-reductase.21
219014242012Amyloid pathway-based candidate gene analysis of [(11)C]PiB-PET in the Alzheimer's Disease Neuroimaging Initiative (ADNI) cohort.20
198155562009Down-regulation of seladin-1 increases BACE1 levels and activity through enhanced GGA3 depletion during apoptosis.18

Citation

Dessen P

DHCR24 (24-dehydrocholesterol reductase)

Atlas Genet Cytogenet Oncol Haematol. 2003-08-01

Online version: http://atlasgeneticsoncology.org/gene/40302/dhcr24