Cholesterol biosynthesis with skeletal dysplasias (WP4804)

Homo sapiens

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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 Weitz

Activity

last edited

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Cited In

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Organisms

Homo sapiens

Communities

Rare Diseases Skeletal Dysplasia

Annotations

Disease Ontology

genetic disease

Pathway Ontology

cholesterol biosynthetic pathway disease pathway

Participants
Query Drugst.One

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
LBR GeneProduct ensembl:ENSG00000143815
CYP51A1 GeneProduct ensembl:ENSG00000001630
NSDHL GeneProduct ensembl:ENSG00000147383
EBP GeneProduct ensembl:ENSG00000147155
SC5D GeneProduct ensembl:ENSG00000109929
DHCR7 GeneProduct ensembl:ENSG00000172893
SC5D GeneProduct ensembl:ENSG00000109929
EBP GeneProduct ensembl:ENSG00000147155

References

  1. 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