ZEB2
ZEB2
아연핑거 E박스 결합 호메오박스2는 ZEB2 [5]유전자에 의해 인체 내에서 부호화되는 단백질이다.ZEB2 단백질은 초기 태아 [6]발달 동안 필수적인 변환 성장인자 β(TGFβ) 신호 경로에 역할을 하는 전사 인자이다.
기능.
ZEB2(이전의 SMADIP1, SIP1)와 그 포유동물 패럴로그 ZEB1은 호메오도메인 전사 인자의 ZF(아연 핑거) 클래스 내의 Zeb 패밀리에 속합니다.ZEB2 단백질은 8개의 아연 손가락과 1개의 호메오도메인을 [7]가지고 있습니다.오른쪽에 나타난 호메오도메인의 구조.
ZEB2는 수용체 매개,[5] 활성화된 전장 SMAD와 상호작용합니다.TGFβ 수용체의 활성화는 세포 내 이펙터 분자인 R-SMADs의 인산화를 초래한다. ZEB2는 R-SMAD 결합 단백질로 전사 코어프레서 역할을 한다.그것은 인간과 다른 [8]포유동물들 사이의 뇌 크기에서 큰 차이를 허용하는 것으로 생각되는 메커니즘인 초기 발달에서 신경 상피 세포가 방사상 신경교 세포로 전환되는 타이밍에 관여한다.
ZEB2 전사물은 뇌신경절, 배근신경절, 교감신경절사슬, 장신경계 및 멜라노사이트와 같은 신경능과 구별되는 조직에서 발견된다.ZEB2는 또한 소화관, 신장, 골격근의 벽을 포함한 신경능에서 유래되지 않은 조직에서도 발견됩니다.
임상적 의의
ZEB2 유전자의 돌연변이는 모왓-윌슨 증후군과 관련이 있다.이 질병은 돌연변이와 심지어 ZEB2 유전자의 완전한 결실을 보인다.유전자의 돌연변이는 유전자가 기능하지 않는 ZEB2 단백질을 생성하게 하거나 기능 유전자 전체를 비활성화 시킬 수 있다.이러한 ZEB2 단백질의 결핍은 많은 장기의 발달을 방해한다.많은 증상들은 신경능으로부터 [9]불규칙한 구조의 발달로 설명될 수 있다.
허쉬스프룽병은 또한 소화관 신경이 발달하는 동안 ZEB2의 부족으로 설명될 수 있는 많은 증상들을 가지고 있다.이 병은 심한 변비와 [10]대장의 종창을 일으킨다.
레퍼런스
- ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG00000169554 - 앙상블, 2017년 5월
- ^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000026872 - 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: ZEB2 zinc finger E-box binding homeobox 2".
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추가 정보
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외부 링크
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