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 …

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 …

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 …

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 …

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 …

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 …

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 …

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 …

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 …