Homo sapiens Protein: DHCR24
InnateDB Protein IDBP-99056.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DHCR24
Protein Name 24-dehydrocholesterol reductase
Synonyms DCE; Nbla03646; seladin-1; SELADIN1;
Species Homo sapiens
Ensembl Protein ENSP00000360316
InnateDB Gene IDBG-99054 (DHCR24)
Protein Structure
UniProt Annotation
Function Catalyzes the reduction of the delta-24 double bond of sterol intermediates. Protects cells from oxidative stress by reducing caspase 3 activity during apoptosis induced by oxidative stress. Also protects against amyloid-beta peptide-induced apoptosis. {ECO:0000269PubMed:11007892, ECO:0000269PubMed:11519011, ECO:0000269PubMed:22010141}.
Subcellular Localization Endoplasmic reticulum membrane; Single-pass membrane protein. Golgi apparatus membrane; Single-pass membrane protein.
Disease Associations Desmosterolosis (DESMOS) [MIM:602398]: Rare autosomal recessive disorder characterized by multiple congenital anomalies and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured cells. {ECO:0000269PubMed:11519011}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Highly expressed in brain and adrenal gland with moderate expression in liver, lung, spleen, prostate and spinal cord. Low expression in heart, uterus and prostate. Undetectable in blood cells. In the brain, strongly expressed in cortical regions, substantia nigra, caudate nucleus, hippocampus, medulla oblongata and pons. In brains affected by Alzheimer disease, expression in the inferior temporal lobe is substantially lower than in the frontal cortex. {ECO:0000269PubMed:11007892, ECO:0000269PubMed:11519011}.
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 5 [view]
Protein-Protein 5 [view]
Protein-DNA 0
Protein-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0008762 UDP-N-acetylmuramate dehydrogenase activity
GO:0016491 oxidoreductase activity
GO:0016614 oxidoreductase activity, acting on CH-OH group of donors
GO:0016628 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor
GO:0019899 enzyme binding
GO:0042605 peptide antigen binding
GO:0050614 delta24-sterol reductase activity
GO:0050660 flavin adenine dinucleotide binding
Biological Process
GO:0006695 cholesterol biosynthetic process
GO:0006915 apoptotic process
GO:0006979 response to oxidative stress
GO:0007050 cell cycle arrest
GO:0007265 Ras protein signal transduction
GO:0008104 protein localization
GO:0008202 steroid metabolic process
GO:0008203 cholesterol metabolic process
GO:0008285 negative regulation of cell proliferation
GO:0009725 response to hormone
GO:0009888 tissue development
GO:0016125 sterol metabolic process
GO:0030539 male genitalia development
GO:0031639 plasminogen activation
GO:0042987 amyloid precursor protein catabolic process
GO:0043066 negative regulation of apoptotic process
GO:0043154 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0043588 skin development
GO:0044281 small molecule metabolic process
GO:0045087 innate immune response (InnateDB)
GO:0055114 oxidation-reduction process
GO:0061024 membrane organization
GO:1901214 regulation of neuron death
Cellular Component
GO:0000139 Golgi membrane
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0016020 membrane
GO:0016021 integral component of membrane
Protein Structure and Domains
InterPro IPR006094 FAD linked oxidase, N-terminal
IPR016166 FAD-binding, type 2
PFAM PF01565
Post-translational Modifications
SwissProt Q15392
PhosphoSite PhosphoSite-Q15392
UniProt Splice Variant
Entrez Gene 1718
UniGene Hs.608811
RefSeq NP_055577
OMIM 606418
HPRD 05916
EMBL AB073391 AF261758 AF398336 AF398337 AF398338 AF398339 AF398340 AF398341 AF398342 AK298414 AK304437 AK316427 BC004375 BC011669 CH471059 D13643
GenPept AAG17288 AAH04375 AAH11669 AAL15644 BAA02806 BAE45721 BAH12782 BAH14186 BAH14798 EAX06663 EAX06664