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

Cited In

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Organism

Homo sapiens

Communities

Rare Diseases Skeletal Dysplasia

Annotations

Pathway Ontology: cholesterol biosynthetic pathway disease pathway

Disease Ontology: genetic disease

Participants

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