ATP 바인딩 카세트 하위 제품군 G 멤버 8 은 인간에서 ABCG8 유전자 에 의해 인코딩되는 단백질 이다.[5] [6] [7]
이 유전자에 의해 인코딩된 단백질은 ATP 결합 카세트(ABC) 트랜스포터의 슈퍼 패밀리의 일원이다. ABC 단백질은 세포내외막을 가로질러 다양한 분자들을 운반한다. ABC 유전자는 7개의 뚜렷한 하위 가족(ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White)으로 나뉜다. 이 단백질은 화이트 서브패밀리의 일원이다. 이 유전자에 의해 암호화된 단백질은 장내 흡수를 제한하고 스테롤의 담도 배설을 촉진하는 반전달물질의 기능을 한다. 간, 대장, 장에서 조직 특유의 방식으로 표현된다. 이 유전자는 2번 염색체에 가족 구성원 ABCG5와 머리를 맞대고 배열되어 있다. 이 유전자의 돌연변이는 스테롤 축적과 아테롬성 경화증의 원인이 될 수 있으며, 시토스테롤레모니아 환자에게서 관찰되었다.[7]
대화형 경로 지도 각 기사에 연결하려면 아래의 유전자, 단백질, 대사물을 클릭하십시오. [§ 1]
참고 항목 참조 ^ a b c GRCh38: 앙상블 릴리스 89: ENSG00000143921 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000024254 - 앙상블 , 2017년 5월^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ Berge KE, Tian H, Graf GA, Yu L, Grishin NV, Schultz J, Kwiterovich P, Shan B, Barnes R, Hobbs HH (Dec 2000). "Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters". Science . 290 (5497): 1771–5. Bibcode :2000Sci...290.1771B . doi :10.1126/science.290.5497.1771 . PMID 11099417 . ^ Grunhage F, Acalovschi M, Tirziu S, Walier M, Wienker TF, Ciocan A, Mosteanu O, Sauerbruch T, Lammert F (Sep 2007). "Increased gallstone risk in humans conferred by common variant of hepatic ATP-binding cassette transporter for cholesterol" . Hepatology . 46 (3): 793–801. doi :10.1002/hep.21847 PMID 17626266 . 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S2CID 23157539 . 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 . PMID 12150943 . Graf GA, Li WP, Gerard RD, et al. (2002). "Coexpression of ATP-binding cassette proteins ABCG5 and ABCG8 permits their transport to the apical surface" . J. Clin. Invest . 110 (5): 659–69. doi :10.1172/JCI16000 . PMC 151110 PMID 12208867 . Yu L, Li-Hawkins J, Hammer RE, et al. (2002). "Overexpression of ABCG5 and ABCG8 promotes biliary cholesterol secretion and reduces fractional absorption of dietary cholesterol" . J. Clin. Invest . 110 (5): 671–80. doi :10.1172/JCI16001 . PMC 151111 PMID 12208868 . Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences" . Proc. Natl. Acad. Sci. U.S.A . 99 (26): 16899–903. doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . 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 PMID 14504269 . 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 PMID 14703505 . Hubácek JA, Berge KE, Stefková J, et al. (2005). "Polymorphisms in ABCG5 and ABCG8 transporters and plasma cholesterol levels". Physiological Research . 53 (4): 395–401. PMID 15311998 . 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 PMID 15611112 . Langheim S, Yu L, von Bergmann K, et al. (2005). "ABCG5 and ABCG8 require MDR2 for secretion of cholesterol into bile" . J. Lipid Res . 46 (8): 1732–8. doi :10.1194/jlr.M500115-JLR200 PMID 15930516 . Miettinen TA, Klett EL, Gylling H, et al. (2006). "Liver Transplantation in a Patient With Sitosterolemia and Cirrhosis" . Gastroenterology . 130 (2): 542–7. doi :10.1053/j.gastro.2005.10.022 . PMC 1391914 PMID 16472606 . Lally S, Tan CY, Owens D, Tomkin GH (2006). "Messenger RNA levels of genes involved in dysregulation of postprandial lipoproteins in type 2 diabetes: the role of Niemann-Pick C1-like 1, ATP-binding cassette, transporters G5 and G8, and of microsomal triglyceride transfer protein" . Diabetologia . 49 (5): 1008–16. doi :10.1007/s00125-006-0177-8 PMID 16518588 .
외부 링크 이 기사는 공공영역 에 있는 미국 국립 의학 도서관 의 텍스트를 통합하고 있다.
