DHCR24 Gene Summary [Human]
This gene encodes a flavin adenine dinucleotide (FAD)-dependent oxidoreductase which catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis. The protein contains a leader sequence that directs it to the endoplasmic reticulum membrane. Missense mutations in this gene have been associated with desmosterolosis. Also, reduced expression of the gene occurs in the temporal cortex of Alzheimer disease patients and overexpression has been observed in adrenal gland cancer cells. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | DHCR24 |
| Official Name | 24-dehydrocholesterol reductase [Source:HGNC Symbol;Acc:HGNC:2859] |
| Ensembl ID | ENSG00000116133 |
| Bio databases IDs | |
| Aliases | 24-dehydrocholesterol reductase, Delta(24)-sterol reductase |
| Synonyms | 2310076D10Rik, 24-Dehydrocholesterol Reductase, 24-Dhcr, 3-beta--hydroxysterol delta-24-reductase, 3-β--hydroxysterol δ-24-reductase, 5830417J06Rik, DCE, KIAA0018, mKIAA0018, Nbla03646, SELADIN1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human DHCR24 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- CH-CH group:NAD or NADP oxidoreductase
- delta24-sterol reductase
- enzyme binding
- enzyme
- protein binding
- D24-sterol reductase
- D24(241)-sterol reductase
- peptide antigen binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- desmosterolosis
- Alzheimer disease
- cognitive impairment
- Rett syndrome
- melanoma
- melanoma cancer
- organismal death
- idiopathic hydrops fetalis
- multiple sclerosis
- experimental autoimmune encephalomyelitis
role in cell
- expression in
- production in
- proliferation
- acetylation in
- apoptosis
- cell viability
- colony formation
- activation in
- binding in
- cell death
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- pH resistant lipid raft fraction
- Nucleus
- Golgi Apparatus
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
- Golgi membrane
- cis Golgi cisternae
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DHCR24 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- amyloid precursor protein catabolic process
- membrane organization
- cholesterol biosynthetic process via lathosterol
- negative regulation of cell proliferation
- protein localization
- cholesterol biosynthetic process
- steroid metabolic process
- Ras protein signal transduction
- response to hormone stimulus
- skin development
- tissue development
- male genitalia development
- plasminogen activation
- cholesterol biosynthetic process via desmosterol
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- nucleus
- cytoplasm
- membrane
- Golgi membrane
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- FAD binding
- protein binding
- peptide antigen binding
- oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor
- delta24-sterol reductase activity
- delta24(24-1) sterol reductase activity
- enzyme binding