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ABCG8

Synonyms
GBD4, STSL, STSL1
External resources
Summary
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The protein encoded by this gene functions to exclude non-cholesterol sterol entry at the intestinal level, promote excretion of cholesterol and sterols into bile, and to facilitate transport of sterols back into the intestinal lumen. It is expressed in a tissue-specific manner in the liver, intestine, and gallbladder. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG5. Mutations in this gene may contribute to sterol accumulation and atherosclerosis, and have been observed in patients with sitosterolemia.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
29
Likely pathogenic
0
VUS
10,871
Likely benign
785
Benign
110

Patient phenotypes

Proportions of phenotypes among 29 patients carrying pathogenic or likely pathogenic variants on ABCG8 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
34.5%
Abnormality of the cardiovascular system
20.7%
Abnormality of the genitourinary system
20.7%
Abnormality of the musculoskeletal system
17.2%
Abnormality of head or neck
13.8%
Abnormality of the eye
13.8%
Abnormality of the ear
10.3%
Abnormality of the integument
10.3%
Abnormality of the respiratory system
10.3%
Abnormality of limbs
6.9%
Abnormality of the digestive system
6.9%
Abnormality of the immune system
6.9%
Growth abnormality
6.9%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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