Cholesterol biosynthesis with skeletal dysplasias (Homo sapiens)
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Description
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 [1].
Linked with a dotted arrow to the GeneProduct nodes are diseases caused by mutation in the respective gene.
Quality Tags
Ontology Terms
Bibliography
- 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; ''Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.''; Pediatr Radiol, 2015 PubMed Europe PMC Scholia
History
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External references
DataNodes
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Name | Type | Database reference | Comment |
---|---|---|---|
(3beta,5alpha)-cholesta-7,24-dien-3-ol | Metabolite | CHEBI:16290 (ChEBI) ![]() | |
(5alpha)-cholest-8-en-3beta-ol | Metabolite | CHEBI:16608 (ChEBI) ![]() | |
14-Demethyllanosterol | Metabolite | CHEBI:18364 (ChEBI) ![]() | |
4,4-Dimethylcholesta-8(9),14-dien-3beta-ol | Metabolite | HMDB0060147 (HMDB) ![]() | |
4,4-dimethyl-5alpha-cholest-8-en-3beta-ol | Metabolite | CHEBI:87044 (ChEBI) ![]() | |
4,4-dimethyl-5alpha-cholesta-8,14,24-trien-3beta-ol | Metabolite | CHEBI:17813 (ChEBI) ![]() | |
7-Dehydrocholesterol | Metabolite | CHEBI:17759 (ChEBI) ![]() | |
7-Dehydrodesmosterol | Metabolite | CHEBI:27910 (ChEBI) ![]() | |
8-Dehydrocholesterol | Metabolite | HMDB0002027 (HMDB) ![]() | |
CYP51A1 | GeneProduct | ENSG00000001630 (Ensembl) ![]() | |
Cholesterol | Metabolite | CHEBI:16113 (ChEBI) ![]() | |
DHCR24 | GeneProduct | ENSG00000116133 (Ensembl) ![]() | |
DHCR7 | GeneProduct | ENSG00000172893 (Ensembl) ![]() | |
Desmosterol | Metabolite | CHEBI:17737 (ChEBI) ![]() | |
EBP | GeneProduct | ENSG00000147155 (Ensembl) ![]() | |
LBR | GeneProduct | ENSG00000143815 (Ensembl) ![]() | |
Lanosterol | Metabolite | CHEBI:16521 (ChEBI) ![]() | |
Lathosterol | Metabolite | CHEBI:17168 (ChEBI) ![]() | |
Metabolite | Metabolite | ||
NSDHL | GeneProduct | ENSG00000147383 (Ensembl) ![]() | |
SC5D | GeneProduct | ENSG00000109929 (Ensembl) ![]() | |
Vitamin D | Metabolite | CHEBI:27300 (ChEBI) ![]() | |
Zymosterol | Metabolite | CHEBI:18252 (ChEBI) ![]() |
Annotated Interactions
No annotated interactions