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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 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:11870 | Pick's disease | |
| DOID:11949 | Creutzfeldt-Jakob disease | |
| DOID:12098 | trigeminal neuralgia | |
| DOID:12309 | urticaria pigmentosa | |
| DOID:12594 | Potter's syndrome | |
| DOID:12689 | acoustic neuroma | |
| DOID:127 | leiomyoma | |
| DOID:12783 | migraine without aura | |
| DOID:12849 | autistic disorder | |
| DOID:12858 | Huntington's disease |
- 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 |
|---|---|---|---|
| 186134 | WB:WBGene00018718 | ||
| 100181233 | CIOIN09742 | ||
| 103182734 | CALMI25619 | ||
| 102351351 | LATCH06842 | ||
| 494102 | ZFIN:ZDB-GENE-041212-73 | DANRE18898 | |
| 103030946 | ASTMX12786 | ||
| 113588646 | ELEEL41409 | ||
| 106584213 | SALSA85431 | ||
| 115192413 | SALTR29656 | ||
| 115555023 | GADMO06659 |
