Familial hyperlipidemia type 1 (Homo sapiens)

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141717171417141, 1014xLiverTransportCausesFamilial GPIHBP1 deficiencyANGPTL4ANGPTL8Familial lipase maturation factor 1 deficiencyChylomicronChylomicron remnant21, 7, 102, 4, 87322, 4, 5, 1279, 1473, 9719Familial lipoprotein lipase deficiencyVLDLAPOA2CholesterolHDLLDLFamilial apolipoprotein C-II deficiencyLRP1APOA4Familial chylomicronemia due to inhibition of lipoprotein lipase activityFamilial hyperlipidemiaLipoproteinIDL151516, 17Type ICETPLIPCAPOA1LCATLDLRPLTPCholesterolGPIHBP1LPLANGPTL3APOC2APOA5CETPBindingInhibitionConversionGene/proteinMetaboliteCatalysisStimulationMutationsLegendx7CETP71, 7, 101, 7, 10TriglyceridePhospholipidLPLLPL14GPIHBP1151717SEL1LLMF115


Description

Familial hyperlipidemias are classified according to the Fredrickson classification. Type 1 of this classification is linked to a decrease of LPL, either through mutations on the gene itself or because of other factors. LPL hydrolyzed triglycerides in chylomicrons and in very low-density lipoproteins. Type 1 familial hyperlipidemia shows an increase of chylomicrons. LPL normally hydrolizes these chylomicrons into chylomicron remnants. However, mutations in LPL have been shown to be the cause of the first form of type 1 hyperlipidemia. In tissue, LMF1 causes proper folding and assembly of LPL, which is stabalized by Sel1L. LPL is then transported to the endothelial cell surface of the capillary lumen, where it binds to GPIHBP1. APOC2 is essential for LPL activation, which is stabalized by APOA5. Studies have found another form of LPL activity, but with an increased amount of LPL inhibitors. These inhibitors are ANGPTL3,4 and 8. Which of these are inhibiting LPL depends on the tissue the LPL is in.

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Bibliography

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History

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CompareRevisionActionTimeUserComment
119145view10:45, 18 June 2021UlasBabayigitAdded comment to transport arrows
119144view10:33, 18 June 2021UlasBabayigitCorrected arrows into craphical lines.
118728view10:17, 1 June 2021UlasBabayigitAdded references at LMF1 and GPIHBP1
118727view10:15, 1 June 2021UlasBabayigitOntology Term : 'familial GPIHBP1 deficiency' added !
118726view10:14, 1 June 2021UlasBabayigitOntology Term : 'familial lipase maturation factor 1 deficiency' added !
118725view10:03, 1 June 2021UlasBabayigitModified description
118724view09:57, 1 June 2021UlasBabayigitAdded LMF1 and GPIHBP1 deficiency and changed mutation of inhibitors of LPL.
118697view07:31, 1 June 2021UlasBabayigitOntology Term : 'disease pathway' added !
118695view07:29, 1 June 2021UlasBabayigitOntology Term : 'familial lipoprotein lipase deficiency' added !
118504view09:14, 28 May 2021UlasBabayigitOntology Term : 'familial hyperlipidemia' added !
118486view08:01, 28 May 2021UlasBabayigitOntology Term : 'familial chylomicronemia syndrome' added !
118485view08:00, 28 May 2021UlasBabayigitOntology Term : 'familial apolipoprotein C-II deficiency' added !
118484view07:59, 28 May 2021UlasBabayigitOntology Term : 'familial chylomicronemia due to inhibition of lipoprotein lipase activity' added !
118483view07:58, 28 May 2021UlasBabayigitNew pathway

External references

DataNodes

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NameTypeDatabase referenceComment
ANGPTL3GeneProductENSG00000132855 (Ensembl)
ANGPTL4GeneProductENSG00000167772 (Ensembl)
ANGPTL8GeneProductENSG00000130173 (Ensembl)
APOA1GeneProductENSG00000118137 (Ensembl)
APOA2GeneProductENSG00000158874 (Ensembl)
APOA4GeneProductENSG00000110244 (Ensembl)
APOA5GeneProductENSG00000110243 (Ensembl)
APOC2GeneProductENSG00000234906 (Ensembl)
CETPGeneProductENSG00000087237 (Ensembl)
CholesterolMetaboliteCHEBI:16113 (ChEBI)
Chylomicron MetaboliteQ423126 (Wikidata)
Chylomicron remnant MetaboliteQ14890553 (Wikidata)
Familial GPIHBP1 deficiencyQ102293691 (Wikidata)
Familial apolipoprotein C-II deficiencyQ55998523 (Wikidata)
Familial chylomicronemia

due to inhibition of lipoprotein lipase

activity
Q102293256 (Wikidata)
Familial hyperlipidemiaQ18554145 (Wikidata)
Familial lipase maturation factor 1 deficiencyQ102294643 (Wikidata)
Familial lipoprotein lipase deficiencyQ2349695 (Wikidata)
GPIHBP1GeneProductENSG00000277494 (Ensembl)
HDLMetaboliteCHEBI:47775 (ChEBI)
IDLMetaboliteCHEBI:132933 (ChEBI)
LCATGeneProductENSG00000213398 (Ensembl)
LDLMetaboliteCHEBI:47774 (ChEBI)
LDLRGeneProductENSG00000130164 (Ensembl)
LIPCGeneProductENSG00000166035 (Ensembl)
LMF1GeneProductENSG00000103227 (Ensembl)
LPLGeneProductENSG00000175445 (Ensembl)
LRP1GeneProductENSG00000123384 (Ensembl)
LipoproteinMetaboliteCHEBI:6495 (ChEBI)
PLTPGeneProductENSG00000100979 (Ensembl)
PhospholipidMetaboliteCHEBI:16247 (ChEBI)
SEL1LGeneProductENSG00000071537 (Ensembl)
TriglycerideMetaboliteCHEBI:17855 (ChEBI)
VLDLMetaboliteCHEBI:39027 (ChEBI)

Annotated Interactions

No annotated interactions

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