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 as a half-transporter to limit intestinal absorption and promote biliary excretion of sterols. It is expressed in a tissue-specific manner in the liver, colon, and intestine. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG8. Mutations in this gene may contribute to sterol accumulation and atheroschlerosis, and have been observed in patients with sitosterolemia.
Shulenin S, Schriml LM, Remaley AT et al. (2001). "An ATP-binding cassette gene (ABCG5) from the ABCG (White) gene subfamily maps to human chromosome 2p21 in the region of the Sitosterolemia locus". Cytogenet. Cell Genet.92 (3–4): 204–8. doi:10.1159/000056903. PMID11435688.
Heimerl S, Langmann T, Moehle C et al. (2002). "Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia". Hum. Mutat.20 (2): 151. doi:10.1002/humu.9047. PMID12124998.
Remaley AT, Bark S, Walts AD et al. (2002). "Comparative genome analysis of potential regulatory elements in the ABCG5-ABCG8 gene cluster". Biochem. Biophys. Res. Commun.295 (2): 276–82. doi:10.1016/S0006-291X(02)00652-6. PMID12150943.
Graf GA, Yu L, Li WP et al. (2004). "ABCG5 and ABCG8 are obligate heterodimers for protein trafficking and biliary cholesterol excretion". J. Biol. Chem.278 (48): 48275–82. doi:10.1074/jbc.M310223200. PMID14504269.
Ota T, Suzuki Y, Nishikawa T et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet.36 (1): 40–5. doi:10.1038/ng1285. PMID14702039.
Kajinami K, Brousseau ME, Nartsupha C et al. (2004). "ATP binding cassette transporter G5 and G8 genotypes and plasma lipoprotein levels before and after treatment with atorvastatin". J. Lipid Res.45 (4): 653–6. doi:10.1194/jlr.M300278-JLR200. PMID14703505.
Yu L, Gupta S, Xu F et al. (2005). "Expression of ABCG5 and ABCG8 is required for regulation of biliary cholesterol secretion". J. Biol. Chem.280 (10): 8742–7. doi:10.1074/jbc.M411080200. PMID15611112.