Familial hyperlipidemia type 3 (Homo sapiens)

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1625145, 1616PlasmaLiverVLDLR154, 17128, 15, 191720151, 8, 15, 187, 17172512, 20, 241720, 25171114VLDLAPOA2CholesterolHDLLDLFamilial dysbetalipoproteinemiaAPOA4Familial hyperlipidemiaLipoproteinIDL5, 13Type IIIAPOECETPLIPCAPOA1SCARB1LCATLPLLDLRPLTPxTransportBindingConversionGene/proteinMetaboliteCatalysisStimulationMutationsLegendxCETP4, 17LRP11717CETP4, 174, 17CholesterolTriglyceridePhospholipid5, 16


Description

Familial hyperlipidemias are classified according to the Fredrickson classification. Type III is also known is familial dysbetalipoproteinemia. It is mainly linked to an increase of IDL. This is caused by APOE. APOE has multiple types, and is part of LDL, IDL, VLDL and chylomicrons. APOE also binds to LDLR, which is required for normal catabolism of triglycerid-rich proteins. Specifically APOE2 is linked with to IDL and because of this, mutations in APOE2 will lead to dysbetalipoproteinemia.

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Bibliography

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  14. Obinata H, Kuo A, Wada Y, Swendeman S, Liu CH, Blaho VA, Nagumo R, Satoh K, Izumi T, Hla T; ''Identification of ApoA4 as a sphingosine 1-phosphate chaperone in ApoM- and albumin-deficient mice.''; J Lipid Res, 2019 PubMed Europe PMC Scholia
  15. Go GW, Mani A; ''Low-density lipoprotein receptor (LDLR) family orchestrates cholesterol homeostasis.''; Yale J Biol Med, 2012 PubMed Europe PMC Scholia
  16. Lucero D, Islam P, Freeman LA, Jin X, Pryor M, Tang J, Kruth HS, Remaley AT; ''Interleukin 10 promotes macrophage uptake of HDL and LDL by stimulating fluid-phase endocytosis.''; Biochim Biophys Acta Mol Cell Biol Lipids, 2020 PubMed Europe PMC Scholia
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History

View all...
CompareRevisionActionTimeUserComment
134184view10:24, 16 July 2024EweitzOntology Term : 'hepatocyte' added !
134183view10:23, 16 July 2024EweitzColor disease nodes
134182view10:16, 16 July 2024EweitzSpecify: "Liver" -> "Liver cell"
134181view10:13, 16 July 2024EweitzTry aligning dash phases
134180view10:06, 16 July 2024EweitzRefine legend, economize layout
120392view08:44, 30 November 2021Fehrhartsmall graphical change
119150view10:55, 18 June 2021UlasBabayigitCorrected transport arrows
118699view07:32, 1 June 2021UlasBabayigitOntology Term : 'hyperlipoproteinemia type III' added !
118698view07:32, 1 June 2021UlasBabayigitOntology Term : 'disease pathway' added !
118502view09:13, 28 May 2021UlasBabayigitOntology Term : 'familial hyperlipidemia' added !
118490view08:44, 28 May 2021UlasBabayigitNew pathway

External references

DataNodes

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NameTypeDatabase referenceComment
APOA1GeneProductENSG00000118137 (Ensembl)
APOA2GeneProductENSG00000158874 (Ensembl)
APOA4GeneProductENSG00000110244 (Ensembl)
APOEGeneProductENSG00000130203 (Ensembl)
CETPGeneProductENSG00000087237 (Ensembl)
CholesterolMetaboliteCHEBI:16113 (ChEBI)
Familial dysbetalipoproteinemiaQ2069207 (Wikidata)
Familial hyperlipidemiaQ18554145 (Wikidata)
HDLMetaboliteCHEBI:47775 (ChEBI)
IDLMetaboliteCHEBI:132933 (ChEBI)
LCATGeneProductENSG00000213398 (Ensembl)
LDLMetaboliteCHEBI:47774 (ChEBI)
LDLRGeneProductENSG00000130164 (Ensembl)
LIPCGeneProductENSG00000166035 (Ensembl)
LPLGeneProductENSG00000175445 (Ensembl)
LRP1GeneProductENSG00000123384 (Ensembl)
LipoproteinMetaboliteCHEBI:6495 (ChEBI)
PLTPGeneProductENSG00000100979 (Ensembl)
PhospholipidMetaboliteCHEBI:16247 (ChEBI)
SCARB1GeneProductENSG00000073060 (Ensembl)
TriglycerideMetaboliteCHEBI:17855 (ChEBI)
VLDLMetaboliteCHEBI:39027 (ChEBI)
VLDLRGeneProductENSG00000147852 (Ensembl)

Annotated Interactions

No annotated interactions

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