Familial hyperlipidemia type 3 (Homo sapiens)

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3220631, 3232LiverPlasmaVLDLR527, 29215, 7, 19271855, 14, 19, 2217, 27272018, 21, 232718, 2027166VLDLAPOA2CholesterolHDLLDLFamilial dysbetalipoproteinemiaAPOA4Familial hyperlipidemiaLipoproteinIDL9, 31Type IIIAPOECETPLIPCAPOA1SCARB1LCATLPLLDLRPLTPxTransportBindingConversionGene/proteinMetaboliteCatalysisStimulationMutationsLegendxCETP27, 29LRP12727CETP27, 2927, 29CholesterolTriglyceridePhospholipid31, 32


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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  27. Ayhan H, Gormus U, Isbir S, Yilmaz SG, Isbir T; ''SCARB1Gene Polymorphisms and HDL Subfractions in Coronary Artery Disease.''; In Vivo, 2017 PubMed Europe PMC Scholia
  28. 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
  29. Wolska A, Dunbar RL, Freeman LA, Ueda M, Amar MJ, Sviridov DO, Remaley AT; ''Apolipoprotein C-II: New findings related to genetics, biochemistry, and role in triglyceride metabolism.''; Atherosclerosis, 2017 PubMed Europe PMC Scholia
  30. Todur SP, Ashavaid TF; ''Association of CETP and LIPC Gene Polymorphisms with HDL and LDL Sub-fraction Levels in a Group of Indian Subjects: A Cross-Sectional Study.''; Indian J Clin Biochem, 2013 PubMed Europe PMC Scholia
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History

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CompareRevisionActionTimeUserComment
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

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