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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:0060293 | autosomal dominant chondrodysplasia punctata | |
| DOID:0060469 | Miller-Dieker lissencephaly syndrome | |
| DOID:0060807 | syndromic X-linked intellectual disability Najm type | |
| DOID:0060857 | septooptic dysplasia | |
| DOID:0080200 | bilateral renal aplasia | |
| DOID:0080348 | Alzheimer's disease 1 | |
| DOID:0080352 | X-linked chondrodysplasia punctata 2 | |
| DOID:0090103 | Huntington's disease-like 1 | |
| DOID:0090104 | Huntington's disease-like 2 | |
| DOID:0090130 | cortical dysplasia-focal epilepsy syndrome |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001744 | Splenomegaly |
| HP:0001776 | Bilateral talipes equinovarus |
| HP:0001840 | Metatarsus adductus |
| HP:0001883 | Talipes |
| HP:0002007 | Frontal bossing |
| HP:0002063 | Rigidity |
| HP:0002119 | Ventriculomegaly |
| HP:0002126 | Polymicrogyria |
| HP:0002133 | Status epilepticus |
| HP:0002269 | Abnormality of neuronal migration |
| 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 |
