GENE REFERENCE / HGNC:13886

ABCG5

ATP binding cassette subfamily G member 5

protein-coding gene2p21Gene information

What does this gene do?

The ABCG5 gene provides instructions for making sterolin-1, which makes up half of a protein called sterolin. The other half of the sterolin protein, sterolin-2, is produced from a gene called ABCG8. Sterolin is involved in eliminating plant sterols, which are fatty components of plant-based foods that cannot be used by human cells.

Sterolin is a transporter protein, which is a type of protein that moves substances across cell membranes. It is found mostly in cells of the intestines and liver and transports plant sterols. After plant sterols are absorbed from food into intestinal cells, the sterolin transporters in these cells pump them back into the intestinal tract. Sterolin transporters in liver cells pump the plant sterols into a fluid called bile that is released into the intestine. From the intestine, the plant sterols are eliminated with the feces. This process removes most of the dietary plant sterols, and allows only about 5 percent of these substances to get into the bloodstream. Sterolin also helps regulate levels of cholesterol, another fatty substance found in animal products, in a similar fashion; normally about 50 percent of cholesterol in the diet is absorbed by the body.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2013-05.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
sitosterolemiaMONDO:0008863 · Evaluated 2020-07-10	Autosomal recessive	DefinitiveHemostasis/Thrombosis Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 1,019
Submissions for variants in or overlapping this gene: 1,933
Submissions explicitly reporting this gene: 1,758
Alleles reported pathogenic / likely pathogenic: 86
VariationIDs with uncertain significance: 488
VariationIDs with conflicting classifications: 70

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about ABCG5?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 86 alleles in ABCG5 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in ABCG5.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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