ATP-binding cassette sub-family G member 5 is a protein that in humans is encoded by the ABCG5 gene. [5][6][7] 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.

2014年1月20日 · ATP-binding cassette (ABC) transporters G5 (ABCG5) and G8 (ABCG8) form an obligate heterodimer that limits intestinal absorption and facilitates biliary secretion of cholesterol and phytosterols. Consistent with their function, ABCG5 and ABCG8 are located on the apical membrane of enterocytes and hepatocytes.

The ABCG5 gene provides instructions for making sterolin-1, which makes up half of a protein called sterolin. Learn about this gene and related health conditions.

2024年12月24日 · ABCG5 (ATP Binding Cassette Subfamily G Member 5) is a Protein Coding gene. Diseases associated with ABCG5 include Sitosterolemia 2 and Sitosterolemia. Among its related pathways are Autodegradation of the E3 ubiquitin ligase COP1 and NR1H2 and NR1H3-mediated signaling.

In this review, we summarize recent pathophysiological and structural findings of ABCG5/G8, interpret the structure-function relationship in disease-causing variants and describe the available evidence that allows us to build a mechanistic view of ABCG5/G8-mediated sterol transport.

Sitosterolemia is a lipid disorder characterized by the accumulation of dietary xenosterols in plasma and tissues caused by mutations in either ABCG5 or ABCG8. ABCG5 ABCG8 encodes a pair of ABC half transporters that form a heterodimer (G5G8), which ...

In this review, we summarize the genetics and mechanisms of sitosterolemia and sterol trafficking, and provide an update on the understanding of the prevalence of ABCG5 and ABCG8 variants and their role in human disease. Defects in ABCG5/G8 result in the accumulation of xenosterols.

The gene (called ABCG5) consists of 13 exons, and encodes a 651-residue, 70 kD protein with 6 putative membrane-spanning domains that contains the characteristic ABC signature motifs at its amino...

2025年2月8日 · ATP-binding cassette (ABC) transporters G5 (ABCG5) and G8 (ABCG8) form an obligate heterodimer that limits intestinal absorption and facilitates biliary secretion of cholesterol and phytosterols. ABCG5/8 variants are associated with susceptibility to coronary heart disease.

2020年8月30日 · For loss-of-function (LoF) variants at the ABCG5, ABCG8, PCSK9, or LDLR genes, relationship between impact on LDL (low-density lipoprotein) cholesterol (LDL-C) levels and coronary artery disease (CAD) risk. Solid line indicates a dose-response reference line with the 95% CI indicated by shadow.