apolipoprotein C-III deficiency

Summary
Synonym
  • HALP2
  • hyperalphalipoproteinemia 2
Definition
A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in the APOC3 gene on chromosome 11q23.3.
Super Class
autosomal dominant disease cholesterol-ester transfer protein deficiency
Disease Ontology
DOID:0111370
Mondo Disease Ontology
MeSH
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
345 APOC3 apolipoprotein C3
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P02656 Apolipoprotein C-III

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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