Cholesterol synthesis disorders (WP5193)

Homo sapiens

Cholesterol is synthesized via a cascade of enzymatic reactions known as the mevalonate pathway. This series of reactions is primarily regulated by a rate-limiting step involving the conversion of hydroxyl-methyl glutaryl-coenzyme A (HMG-CoA) into mevalonate. In this pathway multiple diseases and disorders involving the cholesterol synthesis are included and its role depicted in the pathway.


Eveline Peterse , Denise Slenter , Friederike Ehrhart , and Eric Weitz


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Homo sapiens


Inherited Metabolic Disorders (IMD) Pathways Rare Diseases


Disease Ontology

hypotrichosis 14 Greenberg dysplasia mevalonic aciduria disease porokeratosis X-linked chondrodysplasia punctata 2 cataract 44 Antley-Bixler syndrome CHILD syndrome Smith-Lemli-Opitz syndrome alopecia-mental retardation syndrome 4

Pathway Ontology

cholesterol transport pathway altered cholesterol biosynthetic pathway cholesterol metabolic pathway cholesterol biosynthetic pathway desmosterolosis pathway


Label Type Compact URI Comment
(r)-mevalonic acid-5-pyrophosphate Metabolite wikidata:Q33061105
Dimethylallyl pyrophosphate Metabolite chebi:16057
Farnesyl pyrophosphate Metabolite hmdb:HMDB00961
squalene Metabolite wikidata:Q407560
Desmosterol Metabolite chebi:17737
Lathosterol Metabolite chebi:17168
(S)-2,3-epoxysqualene Metabolite chebi:15441
Mevalonic acid Metabolite hmdb:HMDB00227
Zymosterol Metabolite chebi:18252
lanosterol Metabolite chebi:16521
7-Dehydrocholesterol Metabolite hmdb:HMDB00032
(R)-Mevalonic acid 5-phosphate Metabolite chebi:17436
isopentenyl pyrophosphate Metabolite chebi:128769
cholesterol Metabolite chebi:16113
Geranyl-PP Metabolite hmdb:HMDB01285
Acetyl-CoA Metabolite hmdb:HMDB01206
HMG-CoA Metabolite chebi:15467
SQLE GeneProduct ensembl:ENSG00000104549
DHCR7 GeneProduct ensembl:ENSG00000172893
MSMO1 GeneProduct ensembl:ENSG00000052802
LBR GeneProduct ensembl:ENSG00000143815
FDFT1 GeneProduct ensembl:ENSG00000079459
EBP GeneProduct ensembl:ENSG00000147155
HMGCS1 GeneProduct ensembl:ENSG00000112972
MVD GeneProduct ensembl:ENSG00000167508
PMVK GeneProduct ensembl:ENSG00000163344
DHCR24 GeneProduct ensembl:ENSG00000116133
FDPS GeneProduct ensembl:ENSG00000160752
IDI1 GeneProduct ensembl:ENSG00000067064
SC5D GeneProduct ensembl:ENSG00000109929
HSD3B2 GeneProduct ensembl:ENSG00000203859
CYP51A1 GeneProduct ensembl:ENSG00000001630
HMGCR GeneProduct ensembl:ENSG00000113161
LSS GeneProduct ensembl:ENSG00000160285
MVK GeneProduct ensembl:ENSG00000110921
FDPS GeneProduct ensembl:ENSG00000160752


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