내더린B수용체
Endothelin B receptorET라고도B 알려진 엔도텔린 수용체 타입 B는 인간에게 EDNRB 유전자에 의해 암호화된 단백질이다.[5]
함수
엔도텔린 수용체 타입 B는 G단백질 결합 수용체로 인산염리노시톨칼슘 제2메신저 시스템을 활성화한다.리간드, 엔도텔린은 세 가지 강력한 바소액티브 펩타이드, 즉 ET1, ET로3 구성되어2 있다.SVR이라는 스플라이스 변종이 설명되었다. ETB-SVR 수용체의 순서는 세포내 C-단자 영역을 제외하고 ETRB와 동일하다.두 개의 스플라이스 변형 모두 ET를1 결합하지만, 결합 시 서로 다른 반응을 보이며, 이는 그것들이 기능적으로 구별될 수 있음을 시사한다.[6]
규정
멜라노사이트 세포에서 EDNRB 유전자는 마이크로파탈리아 관련 전사 인자에 의해 조절된다.두 유전자의 돌연변이는 와르덴부르크 증후군과 연결된다.[7][8]
임상적 유의성
다유전자 질환인 허쉬스프룽병 타입 2는 내피수용체 타입 B 유전자의 돌연변이 때문이다.[9]
동물
말에서 EDNRB 유전자 가운데 돌연변이인 Ile118Lys는 동질일 때 치명적 화이트 증후군을 일으킨다.[10]이 돌연변이에서는 DNA 복제의 불일치로 인해 이솔레우신 대신 리신이 만들어진다.[10]그 결과 EDNRB 단백질은 배아의 발달에 있어서 그 역할을 다하지 못하여 멜라노사이트와 장내 뉴런 전구체의 이동을 제한한다.EDNRB 돌연변이의 단일 사본, 즉 이질성 상태는 프레임 오버로라고 불리는 식별 가능하고 완전히 양성인 얼룩무늬 코트를 생성한다.[11]
상호작용
내더린 수용체 타입 B는 Cobolin 1과 상호작용하는 것으로 나타났다.[12]
리간즈
- 고민자
- 반목자
- A-192,621
- BQ-788
- 보센탄(선택되지 않은 ETA / ETB 길항제)
참고 항목
참조
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- ^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG00000022122 - 앙상블, 2017년 5월
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- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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AG mutation, which changed isoleucine to lysine in the predicted first transmembrane domain of the EDNRB protein. This was associated with LWFS when homozygous and with the overo phenotype when heterozygous. -->
- ^ Metallinos DL, Bowling AT, Rine J (1998). "A missense mutation in the endothelin-B receptor gene is associated with Lethal White Foal Syndrome: an equine version of Hirschsprung disease". Mamm. Genome. 9 (6): 426–31. doi:10.1007/s003359900790. PMID 9585428. S2CID 19536624.
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- ^ Maguire JJ, Davenport AP (Dec 2014). "Endothelin@25 - new agonists, antagonists, inhibitors and emerging research frontiers: IUPHAR Review 12". British Journal of Pharmacology. 171 (24): 5555–72. doi:10.1111/bph.12874. PMC 4290702. PMID 25131455.
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외부 링크
- "Endothelin Receptors: ETB". IUPHAR Database of Receptors and Ion Channels. International Union of Basic and Clinical Pharmacology.
이 기사는 공공영역에 있는 미국 국립 의학 도서관의 텍스트를 통합하고 있다.