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

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1LiverCellIntestineCholesterol poolAbetalipoproteinemia (MTP)Lipoprotein Metabolic Pathways PCSK9LPLLDLRosuvastatin calciumIDLABCA1Triacylglycerol lipase (EC 3.1.1.3) inhibitorsRemnant receptorlysoPC a C18:2SR-B1LPLMethylnorethindroneVLDLARH LDL receptorRemnant(24S)-24,25-epoxycholesterolCyclic fatty acidsTriacylglycerol lipase (EC 3.1.1.3) inhibitorsLactosylceramideHypobetalipoproteinemia (APOB)Lipoprotein lipase deficiency Apolipoprotein C-׀׀ deficiency (APOC2)Dysbetalipoproteinemia (APOE)Hepatic lipase deficiency (LIPC)Familial hypercholesterolemia heterozygous (LDLR)Familial hypercholesterolemia homozygous (LDLR)Autosomal recessive hypercholesterolemia (ARH)Cholesteryl ester transfer protein deficiency (CETP)Tangier disease (ABCA1)Familial LCAT deficiency (partial)Familial LCAT deficiency (complete)Apolipoprotein A-1 deficiency (APOA1)Scavenger receptor B1 deficiency (SCARB1)Autosomal dominant hypercholesterolemiaPCSK9 deficiency with low LDLAbetalipoproteinemia (MTP)Hypobetalipoproteinemia (APOB)


Description

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Bibliography

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  25. Miller SA, Burnett JR, Leonis MA, McKnight CJ, van Bockxmeer FM, Hooper AJ; ''Novel missense MTTP gene mutations causing abetalipoproteinemia.''; Biochim Biophys Acta, 2014 PubMed Europe PMC Scholia
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  37. Lee J, Hegele RA; ''Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management.''; J Inherit Metab Dis, 2014 PubMed Europe PMC Scholia
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History

View all...
CompareRevisionActionTimeUserComment
135536view03:01, 23 September 2024EweitzFix gene symbol per Uniprot ID
135535view02:26, 23 September 2024EweitzUse gene symbols
135534view01:54, 23 September 2024EweitzUse gene symbols
128956view22:46, 24 February 2024EweitzUpgrade disease nodes from opaque, bespoke IDs to human-friendly names
128955view22:04, 24 February 2024EweitzFix truncated interaction at bottom of board
128954view21:45, 24 February 2024EweitzFix typo
128953view21:43, 24 February 2024EweitzAdd bespoke disease ID from label to comment, for easy provenance
128952view18:42, 24 February 2024EweitzOntology Term : 'cholesterol-ester transfer protein deficiency' added !
128951view18:36, 24 February 2024EweitzOntology Term : 'abetalipoproteinemia' added !
128950view18:36, 24 February 2024EweitzOntology Term : 'familial apolipoprotein C-II deficiency' added !
128949view18:35, 24 February 2024EweitzOntology Term : 'familial lipoprotein lipase deficiency' added !
128948view15:53, 24 February 2024EweitzSoften disease color
128084view01:16, 24 January 2024EweitzStandardize case
126061view13:55, 31 March 2023DeSlRemoved RHEA prefix
126060view13:54, 31 March 2023DeSlAdded legend
126059view13:53, 31 March 2023DeSlFixed two RHEA IDs
126058view13:52, 31 March 2023DeSlConcerted 2 secondary UniProt IDs to Primary
124275view13:31, 6 October 2022DeSlAdded interpro ID and comment for remnant receptor
124274view13:28, 6 October 2022DeSlConverted arrows to textLabels to graphical lines
119310view13:13, 23 June 2021FinterlyAdded ISBN for book citation
117285view10:56, 20 May 2021DeSlUpdated PW nodes to single border again.
117269view10:44, 20 May 2021DeSlUpdated DataBase for Vit.D PW and Steroid BioSynthesis PW Nodes
117268view10:41, 20 May 2021DeSlTrying to update PW linkouts
117267view10:37, 20 May 2021DeSlUpdated PW Node visualisations
108085view11:52, 28 November 2019FehrhartOntology Term : 'disease pathway' added !
104036view17:48, 25 April 2019IreneHemelModified description
103489view13:52, 6 March 2019DeSlAdded linkout to oxysterols PW.
103448view16:40, 1 March 2019DeSlModified description
103447view16:39, 1 March 2019DeSlModified description
103446view16:28, 1 March 2019DeSlLast updates to diseases
103445view16:19, 1 March 2019DeSlChanged connectivity of PCSK9
103444view15:43, 1 March 2019DeSlReconnected diseases, added MTP protein
103443view15:18, 1 March 2019DeSlUpdated IDs in CM, remnant, HDL2/3, VDLD and IDL.
103442view15:10, 1 March 2019DeSlUpdated Ids for cyclomicrons and remnant.
103441view15:06, 1 March 2019DeSlAdded more IDs.
103440view14:51, 1 March 2019DeSlAdded IDs for VDLD, IDL and LDL.
103439view14:49, 1 March 2019DeSlAdded explanatory text to HDL, LDL and IDL.
103438view14:45, 1 March 2019DeSlUpdated layout
103437view14:42, 1 March 2019DeSlAdded more visualisations from Blau book.
103436view14:27, 1 March 2019DeSlStarted adding drawings from Blau book.
103429view12:39, 28 February 2019DeSlAdded some more info from book on cholesterol pool
103411view16:07, 27 February 2019DeSlAdded more PW linkouts
103408view12:08, 27 February 2019DeSlAdded more PW linkouts
103407view11:53, 27 February 2019DeSlAdded steroid PW links
103406view11:47, 27 February 2019DeSlUpdated LDL transport into cell.
103403view09:51, 27 February 2019DeSlRemoved weird signs in lit. ref; changed long OMIM linkouts to short ones
103399view17:45, 26 February 2019EgonwModified title
103392view19:14, 25 February 2019DeSlConnected diseases to anchors with enzymes, trying to fix test in Jenkins...
103384view11:22, 25 February 2019IngebudeOntology Term : 'altered lipoprotein metabolic pathway' added !
103383view11:22, 25 February 2019IngebudeOntology Term : 'familial combined hyperlipidemia' added !

External references

DataNodes

View all...
NameTypeDatabase referenceComment
(24S)-24,25-epoxycholesterolMetaboliteCHEBI:41633 (ChEBI)
ABCA1GeneProductENSG00000165029 (Ensembl)
ARH LDL receptorProtein
Cyclic fatty acidsMetaboliteCHEBI:59238 (ChEBI)
IDLMetaboliteCHEBI:132933 (ChEBI)
LDLMetaboliteCHEBI:39026 (ChEBI)
LPLGeneProductENSG00000175445 (Ensembl)
LactosylceramideMetaboliteCHEBI:10392 (ChEBI)
MethylnorethindroneMetaboliteCHEBI:7630 (ChEBI)
PCSK9GeneProductENSG00000169174 (Ensembl)
Remnant Protein
Remnant receptorProtein
Rosuvastatin calciumMetaboliteCHEBI:38545 (ChEBI)
SR-B1Protein
Triacylglycerol lipase (EC 3.1.1.3) inhibitorsMetaboliteCHEBI:65001 (ChEBI)
VLDLMetaboliteCHEBI:39027 (ChEBI)
lysoPC a C18:2MetaboliteCHEBI:28733 (ChEBI)

Annotated Interactions

No annotated interactions

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