호모 사피엔스에서 발견되는 포유류의 단백질
DHCR7 로도 알려진 7-데히드로콜레스테롤 환원효소 는 DHCR7 [5] [6] [7] 단백질 이다.
기능. 이 유전자에 의해 코드된 단백질 은 NADPH를 이용 하여 7-데히드로콜레스테롤 로부터 콜레스테롤 생성을 촉매하는 효소 이다.
DHCR7 유전자는 7-데히드로콜레스테롤 (7-DHC)을 콜레스테롤 로 변환하는 포유류 스테롤 생합성의 최종 효소인 델타-7-스테롤 환원효소(EC 1.3.1.21)를 암호화한다. 이 효소는 스테롤 델타8-델타7 이성질화효소에 의해 도입된 C(7-8) 이중 결합을 제거합니다. 또한, 약물에 의한 기형에서 그것의 역할은 알려져 있다: AY9944와 BM15766과 같은 콜레스테롤 생합성 마지막 단계의 억제제는 뇌의 발달을 심각하게 [5]
병리학 결핍은 스미스-렘리-오피츠 [8] 관련 이 있다.
모든 집고양이와 개 는 평소보다 높은 이 효소의 활성을 가지고 있어 7-데히드로콜레스테롤 [9] 비타민D를 합성 할 수 없게 된다.
인터랙티브 패스 맵 아래의 유전자, 단백질 및 대사물을 클릭하여 각각의 기사와 연결하세요. [§ 1]
「 」를 참조해 주세요. 레퍼런스 ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG00000172893 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000058454 - 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 .^ a b "Entrez Gene: DHCR7 7-dehydrocholesterol reductase" .^ Moebius FF, Fitzky BU, Lee JN, Paik YK, Glossmann H (Feb 1998). "Molecular cloning and expression of the human delta7-sterol reductase" . Proceedings of the National Academy of Sciences of the United States of America . 95 (4): 1899–902. doi :10.1073/pnas.95.4.1899 PMC 19210 PMID 9465114 . ^ Wassif CA, Maslen C, Kachilele-Linjewile S, Lin D, Linck LM, Connor WE, Steiner RD, Porter FD (Jul 1998). "Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome" . American Journal of Human Genetics . 63 (1): 55–62. doi :10.1086/301936 . 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이 기사에는 미국 국립 의학 도서관 (미국 국립 의학 도서관 )의 공공 도메인 텍스트가 포함되어 있습니다.
