Familial hyperlipidemia type 4 (Homo sapiens)

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413, 1314418441FASMalonyl-CoAGCKRGlucokinaseDGAT2Familial hypertriglyceridemiaFamilial hyperlipidemia3, 13Type IV1715151515151515LiverSEL1L165, 9, 178, 11, 165141610, 11, 16, 21519514, 195919VLDLAPOA2CholesterolHDLLDLLRP1APOA4LipoproteinIDLCETPLIPCAPOA1LCATLDLRPLTPLPLLMF1GPIHBP1GPIHBP1LPLAPOC2APOA5CETP95CETP55, 9, 175, 9, 17Fatty acidAcyl-CoAAcyl-CoA synthetase4TriglyceridePDIA2MTTPTriglyceride18xTransportBindingInhibitionConversionGene/proteinMetaboliteCatalysisStimulationMutationsLegendxCholesterolTriglyceridePhospholipid


Description

Familial hyperlipidemias are classified according to the Fredrickson classification. Type IV familial hyperlipidemia is also known as familial hypertriglyceridemia. Typ IV is mostly linked to in increased VLDL within the blood. This is from both an increased production as well as a decreased elimination of VLDL.

The increased production is caused by mutations of GCKR. This gene inhibits glucokinase, which would lead to less triglycerides produced in the liver. These triglycerides would then increase the amount of VLDL in the blood. Mutations in GCKR would therefore lead to increased VLDL.

A decreased elimination is caused by APOA5. APOA5 plays a role in the hydrolysis of VDLD by LPL. Mutations in this gene would therefore lead to a decrease of this hydrolysis.

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Bibliography

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History

View all...
CompareRevisionActionTimeUserComment
134578view23:42, 22 July 2024EweitzOntology Term : 'hepatocyte' added !
134577view23:41, 22 July 2024EweitzRefine legend
119173view06:42, 20 June 2021EgonwNot a mim-conversion
119151view10:57, 18 June 2021UlasBabayigitCorrected arrows into graphical lines and corrected transport arrows
118702view07:34, 1 June 2021UlasBabayigitOntology Term : 'hyperlipoproteinemia type IV' added !
118700view07:33, 1 June 2021UlasBabayigitOntology Term : 'disease pathway' added !
118501view09:13, 28 May 2021UlasBabayigitOntology Term : 'familial hyperlipidemia' added !
118494view09:00, 28 May 2021UlasBabayigitNew pathway

External references

DataNodes

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NameTypeDatabase referenceComment
APOA1GeneProductENSG00000118137 (Ensembl)
APOA2GeneProductENSG00000158874 (Ensembl)
APOA4GeneProductENSG00000110244 (Ensembl)
APOA5GeneProductENSG00000110243 (Ensembl)
APOC2GeneProductENSG00000234906 (Ensembl)
Acyl-CoA synthetaseProteinENSG00000154930 (Ensembl)
Acyl-CoAMetaboliteCHEBI:15522 (ChEBI)
CETPGeneProductENSG00000087237 (Ensembl)
CholesterolMetaboliteCHEBI:16113 (ChEBI)
DGAT2GeneProductENSG00000062282 (Ensembl)
FASGeneProductENSG00000026103 (Ensembl)
Familial hyperlipidemiaQ18554145 (Wikidata)
Familial hypertriglyceridemiaQ5432941 (Wikidata)
Fatty acidMetaboliteCHEBI:35366 (ChEBI)
GCKRGeneProductENSG00000084734 (Ensembl)
GPIHBP1GeneProductENSG00000277494 (Ensembl)
GlucokinaseProteinP35557 (Uniprot-TrEMBL)
HDLMetaboliteCHEBI:47775 (ChEBI)
IDLMetaboliteCHEBI:132933 (ChEBI)
LCATGeneProductENSG00000213398 (Ensembl)
LDLMetaboliteCHEBI:47774 (ChEBI)
LDLRGeneProductENSG00000130164 (Ensembl)
LIPCGeneProductENSG00000166035 (Ensembl)
LMF1GeneProductENSG00000103227 (Ensembl)
LPLGeneProductENSG00000175445 (Ensembl)
LRP1GeneProductENSG00000123384 (Ensembl)
LipoproteinMetaboliteCHEBI:6495 (ChEBI)
MTTPGeneProductENSG00000138823 (Ensembl)
Malonyl-CoAMetaboliteCHEBI:15531 (ChEBI)
PDIA2GeneProductENSG00000185615 (Ensembl)
PLTPGeneProductENSG00000100979 (Ensembl)
PhospholipidMetaboliteCHEBI:16247 (ChEBI)
SEL1LGeneProductENSG00000071537 (Ensembl)
TriglycerideMetaboliteCHEBI:17855 (ChEBI)
VLDLMetaboliteCHEBI:39027 (ChEBI)

Annotated Interactions

No annotated interactions

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