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MIRAGE
sitosterolemia 2

Summary
Definition
An intestinal disease that is characterized by unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules, such as sitosterol that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG5 gene on chromosome 2p21.
Super Class
autosomal recessive disease intestinal disease
Disease Ontology
DOID:0060983
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
64240 ABCG5 ATP binding cassette subfamily G member 5
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q9H222 ATP-binding cassette sub-family G member 5
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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