Cholesterol biosynthesis with skeletal dysplasias (Homo sapiens)

From WikiPathways

Revision as of 04:06, 14 February 2020 by Rlee (Talk | contribs)
Jump to: navigation, search
17-Dehydrodesmosterol4,4-dimethyl-5alpha-cholesta-8,14,24-trien-3beta-olDHCR24Desmosterol8-Dehydrocholesterol4,4-Dimethylcholesta-8(9),14-dien-3beta-olvitamin DsLBRZymosterolSC5D4,4-dimethyl-5alpha-cholest-8-en-3beta-olLanosterolMetabolite(3beta,5alpha)-cholesta-7,24-dien-3-olCholesterol(5alpha)-cholest-8-en-3beta-olDHCR7CYP51A17-DehydrocholesterolLathosterol14-DemethyllanosterolNSDHLEBPLBRCYP51A1NSDHLEBPSC5DDHCR7SC5DEBPOMIM:308050Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb DefectsOMIM:215140Greenberg DysplasiaOMIM:302960Chondrodysplasia Punctata 2, X-Linked DominantOMIM:215140Greenberg DysplasiaOMIM:302960Chondrodysplasia Punctata 2, X-Linked DominantOMIM:308050Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb DefectsOMIM:602398Desmosterolosis


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.

Try the New WikiPathways

View approved pathways at the new wikipathways.org.

Quality Tags

Ontology Terms

 

Bibliography

  1. 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

View all...
CompareRevisionActionTimeUserComment
128524view14:34, 11 February 2024EweitzSoften disease color, standardize case
117680view12:04, 22 May 2021EweitzModified title
113891view03:30, 7 December 2020EgonwTypo fix in HMDB identifier
113832view08:46, 30 November 2020FehrhartOntology Term : 'genetic disease' added !
113760view15:19, 19 November 2020DeSlUpdated old HMDB IDs
111737view17:27, 3 September 2020KhanspersOntology Term : 'disease pathway' added !
111736view17:27, 3 September 2020KhanspersOntology Term : 'cholesterol biosynthetic pathway' added !
110273view06:44, 2 May 2020EgonwReplaced secondary ChEBI identifiers with a primary identifiers.
109130view06:15, 18 February 2020RleeFixed an unconnected line.
109024view04:06, 14 February 2020RleeModified description
109023view03:58, 14 February 2020RleeRemoved extra DataNode and linked disease label.
109018view02:33, 14 February 2020RleeModified description
109017view02:30, 14 February 2020RleeNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
(3beta,5alpha)-cholesta-7,24-dien-3-olMetaboliteCHEBI:16290 (ChEBI)
(5alpha)-cholest-8-en-3beta-olMetaboliteCHEBI:16608 (ChEBI)
14-DemethyllanosterolMetaboliteCHEBI:755 (ChEBI)
4,4-Dimethylcholesta-8(9),14-dien-3beta-olMetaboliteHMDB60147 (HMDB)
4,4-dimethyl-5alpha-cholest-8-en-3beta-olMetaboliteCHEBI:87044 (ChEBI)
4,4-dimethyl-5alpha-cholesta-8,14,24-trien-3beta-olMetaboliteCHEBI:17813 (ChEBI)
7-DehydrocholesterolMetaboliteCHEBI:3658 (ChEBI)
7-DehydrodesmosterolMetaboliteCHEBI:2257 (ChEBI)
8-DehydrocholesterolMetaboliteHMDB02027 (HMDB)
CYP51A1GeneProductENSG00000001630 (Ensembl)
CholesterolMetaboliteCHEBI:3659 (ChEBI)
DHCR24GeneProductENSG00000116133 (Ensembl)
DHCR7GeneProductENSG00000172893 (Ensembl)
DesmosterolMetaboliteCHEBI:4451 (ChEBI)
EBPGeneProductENSG00000147155 (Ensembl)
LBRGeneProductENSG00000143815 (Ensembl)
LanosterolMetaboliteCHEBI:16521 (ChEBI)
LathosterolMetaboliteCHEBI:2138 (ChEBI)
MetaboliteMetabolite
NSDHLGeneProductENSG00000147383 (Ensembl)
SC5DGeneProductENSG00000109929 (Ensembl)
ZymosterolMetaboliteCHEBI:10131 (ChEBI)
vitamin DsMetaboliteCHEBI:27300 (ChEBI)

Annotated Interactions

No annotated interactions

Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP4804"
Personal tools