primary hypoalphalipoproteinemia 2

Summary
Synonym
  • Apolipoprotein A-I deficiency
Definition
A hypolipoproteinemia that is characterized by dysfunctional apoA-I production, resulting in undetectable levels of apoA-I in serum and in markedly low levels of serum high density lipoprotein cholesterol, is generally an autosomal recessive disorder associated with extensive atherosclerosis, xanthomas, and corneal opacities, and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the APOA1 gene on chromosome 11q23.
Super Class
hypolipoproteinemia
Disease Ontology
DOID:0080958
ORDO
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
335 APOA1 apolipoprotein A1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P02647 Apolipoprotein A-I

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.2.1

Last updated: April 7, 2025