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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
24-dehydrocholesterol reductase
Summary
- Gene Symbol
-
- DHCR24
- Aliases
-
- Delta(24)-sterol reductase
- KIAA0018
- seladin-1
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Cholesterol biosynthesis
- Disease variant
- Endoplasmic reticulum
- FAD
- Golgi apparatus
- NADP
- Oxidoreductase
- Reference proteome
- Signal
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| Q15392 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| male genitalia development | ||
| cholesterol biosynthetic process via desmosterol | ||
| response to hormone | ||
| steroid metabolic process |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| Golgi membrane |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor | ||
| delta24(24-1) sterol reductase activity | ||
| delta24-sterol reductase activity | ||
| enzyme binding | ||
| peptide antigen binding |
GO Hierarchy
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0040085 | bacterial sepsis | |
| DOID:0050424 | familial adenomatous polyposis | |
| DOID:0050453 | lissencephaly | |
| DOID:0050777 | Joubert syndrome | |
| DOID:0060041 | autism spectrum disorder | |
| DOID:0060270 | pontocerebellar hypoplasia type 2D | |
| DOID:0060276 | pontocerebellar hypoplasia type 7 | |
| DOID:0060277 | pontocerebellar hypoplasia type 8 | |
| DOID:0060278 | pontocerebellar hypoplasia type 9 | |
| DOID:0060292 | X-linked chondrodysplasia punctata 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000033 | Ambiguous genitalia, male |
| HP:0000061 | Ambiguous genitalia, female |
| HP:0000062 | Ambiguous genitalia |
| HP:0000104 | Renal agenesis |
| HP:0000160 | Narrow mouth |
| HP:0000169 | Gingival fibromatosis |
| HP:0000175 | Cleft palate |
| HP:0000176 | Submucous cleft hard palate |
| HP:0000193 | Bifid uvula |
| Disease ID | Disease Name |
|---|---|
| OMIM:602398 |
|
| ORPHA:35107 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP002230
- Gene Name
- 24-dehydrocholesterol reductase
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 100769920 | CRIGR01055 | ||
| 74754 | MGI:1922004 | MOUSE39546 | |
| 298298 | RGD:1306529 | RATNO34052 | |
| 100714000 | CAVPO21163 | ||
| 101582654 | OCTDE21074 | ||
| 101703975 | HETGA27154 | ||
| 102450985 | PELSI14704 | ||
| 100552326 | ANOCA06099 | ||
| 114036298 | VOMUR22164 | ||
| 113889834 | BOBOX07008 |
