ATP 바인딩 카세트 하위 제품군 G 멤버 5 는 인간에서 ABCG5 유전자 에 의해 인코딩되는 단백질 이다.[5] [6] [7]
함수 이 유전자에 의해 인코딩된 단백질은 ATP 결합 카세트(ABC) 트랜스포터 의 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 ABCG8과 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: ENSG00000138075 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000040505 - 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. doi :10.1126/science.290.5497.1771 . PMID 11099417 . ^ Lu K, Lee MH, Hazard S, Brooks-Wilson A, Hidaka H, Kojima H, Ose L, Stalenhoef AF, Mietinnen T, Bjorkhem I, Bruckert E, Pandya A, Brewer HB, Salen G, Dean M, Srivastava A, Patel SB (Aug 2001). "Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively" . American Journal of Human Genetics . 69 (2): 278–90. doi :10.1086/321294 . PMC 1201544 PMID 11452359 . ^ a b "Entrez Gene: ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1)" .
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