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. [provided by RefSeq, Jul 2008]

  • Lipid transport
  • Response to nutrient
  • Excretion
  • Negative regulation of intestinal phytosterol absorption
  • Phospholipid transport
  • Sitosterolemia 1
  • Sitosterolemia
  • Gallbladder disease 4
  • Gallbladder disease
  • Cholelithiasis
  • Other Cardiac Conditions

Based on Ayass Bioscience, LLC Data Analysis

ABCG8 Localizations – Subcellular Localization Database

Gene Location

HM-VUS Prevalence

% 0.357507660878447

Ratio of samples with at least 1 High/Med VUS variant (Computed from Ayass Bioscience Samples)

High/Med VUS Variants

A=0.000653(82/125568,TOPMED)
A=0.00098(93/94986,ALFAProject)
A=0.00039(31/78700,PAGE_STUDY)
A=0.00102(32/31410,GnomAD)
T=0.0004(2/5008,1000G)
A=0.0013(6/4480,Estonian)
A=0.0005(2/3854,ALSPAC)
A=0.0011(4/3708,TWINSUK)
A=0.003(2/600,NorthernSweden)

T=0.000099(25/251416,GnomAD_exome)
T=0.000151(19/125568,TOPMED)
T=0.000107(13/121410,ExAC)
T=0.00008(7/85926,ALFAProject)
T=0.00018(14/78698,PAGE_STUDY)
T=0.00003(1/31392,GnomAD)