familial hypobetalipoproteinemia 2

Summary
Synonym
  • FHBL2
  • combined familial hypolipidemia
Definition
A hypobetalipoproteinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ANGPTL3 gene on chromosome 1p31.
Super Class
hypobetalipoproteinemia
Disease Ontology
DOID:0111061
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
27329 ANGPTL3 angiopoietin like 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
238055 Apob apolipoprotein B
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q9Y5C1 Angiopoietin-related protein 3
Displaying 1 entry
UniProt ID Protein Name Source
F7A3M3 Apolipoprotein B (Fragment)

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025