Gene: GPIHBP1

Alternate names for this Gene: GPI-HBP1|HYPL1D

Gene Summary: This gene encodes a capillary endothelial cell protein that facilitates the lipolytic processing of triglyceride-rich lipoproteins. The encoded protein is a glycosylphosphatidylinositol-anchored protein that is a member of the lymphocyte antigen 6 (Ly6) family. This protein plays a major role in transporting lipoprotein lipase (LPL) from the subendothelial spaces to the capillary lumen. Mutations in this gene are the cause of hyperlipoproteinemia, type 1D. Alternate splicing results in multiple transcript variants.

Gene is located in Chromosome: 8

Location in Chromosome : 8q24.3

Description of this Gene: glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1

Type of Gene: protein-coding

rs587777641 in GPIHBP1 gene and Colitis PMID 24614124 2014 Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia.

PMID 20124439 2010 Chylomicronemia with low postheparin lipoprotein lipase levels in the setting of GPIHBP1 defects.

PMID 21816778 2011 GPIHBP1 C89F neomutation and hydrophobic C-terminal domain G175R mutation in two pedigrees with severe hyperchylomicronemia.

PMID 19304573 2009 Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase.

rs145844329 in GPIHBP1 gene and HYPERLIPOPROTEINEMIA, TYPE ID PMID 21314738 2011 Childhood-onset chylomicronaemia with reduced plasma lipoprotein lipase activity and mass: identification of a novel GPIHBP1 mutation.

PMID 20026666 2010 Mutation of conserved cysteines in the Ly6 domain of GPIHBP1 in familial chylomicronemia.

PMID 21816778 2011 GPIHBP1 C89F neomutation and hydrophobic C-terminal domain G175R mutation in two pedigrees with severe hyperchylomicronemia.

PMID 23831619 2013 Novel combined GPIHBP1 mutations in a patient with hypertriglyceridemia associated with CAD.

PMID 25387803 2015 GPIHBP1 missense mutations often cause multimerization of GPIHBP1 and thereby prevent lipoprotein lipase binding.

PMID 22239554 2012 Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia.

PMID 19304573 2009 Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase.

PMID 27578123 2017 Clinical and genetic features of 3 patients with familial chylomicronemia due to mutations in GPIHBP1 gene.

PMID 24614124 2014 Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia.

PMID 20124439 2010 Chylomicronemia with low postheparin lipoprotein lipase levels in the setting of GPIHBP1 defects.

rs78123380 in GPIHBP1 gene and High density lipoprotein measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

rs587777641 in GPIHBP1 gene and Serum triglycerides increased PMID 20124439 2010 Chylomicronemia with low postheparin lipoprotein lipase levels in the setting of GPIHBP1 defects.

PMID 24614124 2014 Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia.

PMID 19304573 2009 Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase.

PMID 21816778 2011 GPIHBP1 C89F neomutation and hydrophobic C-terminal domain G175R mutation in two pedigrees with severe hyperchylomicronemia.