Cholesterol biosynthesis with skeletal dysplasias (WP4804)
Homo sapiens
Issue: Unable to find 4,4,14-alpha-trimethylcholesta-8(9)-en-3beta-ol from metabolite databases. Taken from Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis by Rossi M, Hall CM, Bouvier R, Collardeau-Frachon S, Le Breton F, Bucourt M, Cordier MP, Vianey-Saban C, Parenti G, Andria G, Le Merrer M, Edery P, Offiah AC [https://www.ncbi.nlm.nih.gov/pubmed/25646736]. Linked with a dotted arrow to the GeneProduct nodes are diseases caused by mutation in the respective gene.
Authors
Ritchie Lee , Egon Willighagen , Kristina Hanspers , Denise Slenter , Friederike Ehrhart , and Eric WeitzActivity
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Organisms
Homo sapiensCommunities
Rare Diseases Skeletal DysplasiaAnnotations
Disease Ontology
genetic diseasePathway Ontology
cholesterol biosynthetic pathway disease pathway| Label | Type | Compact URI | Comment |
|---|---|---|---|
| 4,4-Dimethylcholesta-8(9),14-dien-3beta-ol | Metabolite | hmdb:HMDB0060147 | |
| Cholesterol | Metabolite | chebi:16113 | |
| Zymosterol | Metabolite | chebi:18252 | |
| 7-Dehydrodesmosterol | Metabolite | chebi:27910 | |
| 8-Dehydrocholesterol | Metabolite | hmdb:HMDB0002027 | |
| Lanosterol | Metabolite | chebi:16521 | |
| 4,4-dimethyl-5alpha-cholest-8-en-3beta-ol | Metabolite | chebi:87044 | |
| Vitamin D | Metabolite | chebi:27300 | |
| 4,4-dimethyl-5alpha-cholesta-8,14,24-trien-3beta-ol | Metabolite | chebi:17813 | |
| Desmosterol | Metabolite | chebi:17737 | |
| 14-Demethyllanosterol | Metabolite | chebi:18364 | |
| 7-Dehydrocholesterol | Metabolite | chebi:17759 | |
| (5alpha)-cholest-8-en-3beta-ol | Metabolite | chebi:16608 | |
| Lathosterol | Metabolite | chebi:17168 | |
| (3beta,5alpha)-cholesta-7,24-dien-3-ol | Metabolite | chebi:16290 | |
| DHCR24 | GeneProduct | ensembl:ENSG00000116133 | |
| DHCR7 | GeneProduct | ensembl:ENSG00000172893 | |
| LBR | GeneProduct | ensembl:ENSG00000143815 | |
| SC5D | GeneProduct | ensembl:ENSG00000109929 | |
| CYP51A1 | GeneProduct | ensembl:ENSG00000001630 | |
| NSDHL | GeneProduct | ensembl:ENSG00000147383 | |
| EBP | GeneProduct | ensembl:ENSG00000147155 |
References
- Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis. Rossi M, Hall CM, Bouvier R, Collardeau-Frachon S, Le Breton F, Bucourt M, et al. Pediatr Radiol. 2015 Jul;45(7):965–76. PubMed Europe PMC Scholia