ABCG8
- Known as:
- ABCG8
- Catalog number:
- 000937A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- ABCG8
Related genes to: ABCG8
- Gene:
- ABCG8 NIH gene
- Name:
- ATP binding cassette subfamily G member 8
- Previous symbol:
- -
- Synonyms:
- GBD4
- Chromosome:
- 2p21
- Locus Type:
- gene with protein product
- Date approved:
- 2000-12-12
- Date modifiied:
- 2019-04-23
Related products to: ABCG8
Related articles to: ABCG8
- Interindividual variability in intestinal cholesterol absorption contributes to differences in serum lipid concentrations and cardiovascular risk. Total cholesterol (TC)-standardized campesterol and sitosterol levels are established markers of cholesterol absorption. However, genetic variants in Europeans associated with these markers remain incompletely characterized. A genome-wide association study (GWAS) was performed in 398 healthy individuals of European ancestry. Samples were genotyped using the Precision Medicine Research Array (PMRA). After quality control, 166,037 common genetic variants with a minor allele frequency (MAF) > 20% were analyzed. Associations between genetic variants and intestinal cholesterol absorption markers (campesterol/TC and sitosterol/TC) were evaluated using additive and recessive genetic models. A total of 16 SNPs were identified. Eight SNPs overlapped with both campesterol/TC and sitosterol/TC, of which 2 reached genome-wide significance. Six overlapping SNPs were associated with higher concentrations of both markers: 3 SNPs in (rs4299376, rs6544713, and rs4245791), 1 SNP in (rs4962526), and 2 SNPs in non-coding regions (rs260769 and rs5011112). Additionally, two SNPs (rs2033254 and rs12708980) in were associated with lower concentrations of these markers. Five of the identified SNPs have not previously been linked to markers of intestinal cholesterol absorption. This GWAS confirmed previously reported associations within and identified candidate loci in and that may be involved in intestinal cholesterol absorption. These findings contribute to our understanding of genetic factors underlying intestinal cholesterol absorption and highlight candidate loci for future replication and functional studies. - Source: PubMed
Publication date: 2026/08/16
Mokhtar Fatma B ANuwaylati Dena APlat JogchumCoort Susan L MPopeijus Herman EKleber Marcus ELütjohann DieterMensink Ronald P - Sijunzi decoction (SJZD) is a classic formula in traditional Chinese medicine (TCM) for the treatment of spleen deficiency syndrome (SDS). The chemical composition of SJZD mainly consists of polysaccharides (SJZDP), oligosaccharides (SJZD-OGS), and small-molecule components (SJZD-SMC) dominated by flavonoids, ginsenosides, and terpenoids. Studies have shown that SJZDP, SJZD-OGS, and SJZD-SMC form the material basis of SJZD's efficacy in ameliorating SDS, particularly by regulating gastrointestinal hormones, intestinal barrier function, and the gut microbiota. However, the underlying mechanism by which SJZD and its active components ameliorate SDS remains unclear. - Source: PubMed
Publication date: 2026/08/25
Chen XiaonanPu ZongjinLiu YixinZhang ZhengxuLi Xiaobo - Sitosterolemia is a rare autosomal recessive lipid disorder caused by biallelic pathogenic variants in ABCG5 or ABCG8 , resulting in excessive intestinal absorption and impaired biliary excretion of plant sterols. Although historically considered exceptionally rare, recent genetic studies suggest the disorder is substantially underdiagnosed, with marked phenotypic heterogeneity ranging from xanthomas and premature atherosclerosis to hematologic abnormalities, and frequently mimics familial hypercholesterolemia. This review summarizes recent advances in the clinical, biological, and genetic diagnosis of sitosterolemia, with a focus on strategies that may facilitate earlier detection. - Source: PubMed
Publication date: 2026/08/31
Genoux AnneliseJamme ThibautMartinez Laurent O - Sitosterolemia is a rare autosomal recessive lipid disorder traditionally associated with hypercholesterolemia and xanthomas. However, hematologic abnormalities such as chronic thrombocytopenia and hemolytic anemia are increasingly recognized, often resulting in delayed diagnosis and inappropriate management. - Source: PubMed
Publication date: 2026/08/05
Gül-Bingöl Merveİşat EsraOcak SüheylaElverdi TuğrulÇınar-Özel SimgeCansever Mehmet ŞerifYıldırmak Zeynep YıldızÇeti̇nçeli̇k ÜmranTürkkan EmineUzunyayla GözdeEren TubaKıykım ErtuğrulAktuğlu-Zeybek ÇiğdemZubarioglu Tanyel - Severe hypercholesterolemia in children is commonly caused by familial hypercholesterolemia (FH); however, sitosterolemia, a rare autosomal recessive disorder, should be considered when FH genetic testing is negative. - Source: PubMed
Beacher DanielOtt AmyPlier Rebecca