Metabolic pathway of LDL, HDL and TG, including diseases (WP4522)

This pathway shows genetic disorders related to lipoprotein metabolism. Two plasmalipoproteins, LDL and HDL, and one plasma lipid, triglyceride (TG), play an important role in this pathway. Hydrophobic lipids and fat-soluble vitamins are normally transported to the site of their uptake by transporters called lipoproteins, and any deregulation of the plasma concentrations of these proteins can cause dyslipidemias. Disorders resulting from an enzyme deficiency are highlighted in pink. More details on the composition of the various lipoproteins in this pathway are visualised in []. This pathway was inspired by Chapter 43 of the book of Blau (ISBN 3642403360 (978-3642403361)).
last edited


Ingebude, DeSl, LobkeM, Mkutmon, Egonw, IreneHemel, Fehrhart, and Finterly

Cited In


Homo sapiens


Inborn Errors of Metabolism (IEM) Pathways Rare Diseases


Pathway Ontology: lipoprotein metabolic pathway familial combined hyperlipidemia pathway altered lipoprotein metabolic pathway triacylglycerol metabolic pathway disease pathway

Disease Ontology: hypobetalipoproteinemia Tangier disease familial combined hyperlipidemia autosomal recessive hypercholesterolemia


Label Type Compact Identifier
LPL GeneProduct ensembl:ENSG00000175445
Cholesterol Metabolite chebi:16113
Oxysterols Pathway wikipathways:WP4545
LDLR Protein ensembl:ENSG00000130164
SR-B1 Protein uniprot:Q8WTV0
LCAT GeneProduct ensembl:ENSG00000213398
LDLRAP1 Protein uniprot:Q5SW96
Nuclear hormone receptors(involved in sterol metabolism) Pathway wikipathways:WP299
Vit. D pathway Pathway wikipathways:WP1531
Steroid Biosynthesis(general overview) Pathway wikipathways:WP496
HL GeneProduct uniprot:P11150
HL GeneProduct uniprot:Q9Y5X9
CETP GeneProduct ensembl:ENSG00000087237
Annexin A2 Protein uniprot:H0YKN4
LDL-receptor Protein uniprot:P01130
MTP GeneProduct uniprot:P55157
C-II Protein uniprot:P02655
PCSK9 GeneProduct ensembl:ENSG00000169174
Cyclic fatty acids Metabolite chebi:59238
ABCA1 GeneProduct ensembl:ENSG00000165029
Remnant receptor Protein None
LPL GeneProduct ensembl:ENSG00000175445
Cholesterol Metabolite chebi:16113
Cholesterol Metabolite chebi:16113
Cholesterol Metabolite chebi:16113
Classical steroidogenesis(including diseases) Pathway wikipathways:WP4523
Alternative steroidogenesis(including diseases) Pathway wikipathways:WP4524
Bile Acids Pathway wikipathways:WP4389
B48 Protein uniprot:A8MUN2
E Protein Uniprot-TrEMBL
VLDL Metabolite ChEBI
B100 Protein Uniprot-TrEMBL
B48 Protein Uniprot-TrEMBL
E Protein uniprot:P02649
A-I Protein uniprot:P02647
A-II Protein uniprot:P02652
A-I Protein uniprot:P02647
IDL Metabolite chebi:132933
B100 Protein uniprot:P04114
LDL Metabolite chebi:39026
B100 Protein uniprot:P04114
C-II Protein uniprot:P02655
E Protein uniprot:P02649
E Protein uniprot:P02649
MTP GeneProduct uniprot:P55157


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