CDKN1C 로도 알려진 사이클린 의존성 키나아제 억제제 1C(p57, Kip2 )는 인간에서 CDKN1C 각인 유전자 에 의해 인코딩 되는 단백질이다.[3]
함수 사이클린 의존성 키나아제 억제제 1C는 여러 G1 사이클린/Cdk 복합체의 촘촘한 결합 억제제로서 세포 증식의 음성 조절제다. CDKN1C의 돌연변이는 산발적인 암과 관련이 있고 벡위드위데만 증후군 은 종양 억제제 후보임을 시사한다.[3]
CDKN1C는 11번 염색체 (11p15)의 종양 억제기 인간 유전자 로 cip/kip 유전자 계열에 속한다. G1 사이클린-CDK 콤플렉스에 바인딩되는 셀 사이클 억제제를 인코딩한다.[4] 따라서 p57KIP2는 G1 단계 에서 세포주기의 구속을 유발한다.
CDKN1C는 암세포의 숙소 로 이어지는 것으로 밝혀졌으며, 그 유전자 발현은 SWI/SNF 에 의해 매개된 염색질 리모델링 을 통해 글루코코르티코이드 수용체 (GRs)의 활동을 통해 조절된다.[5]
임상적 유의성 이 유전자의 돌연변이 는 세포 주기에 대한 통제력의 상실을 초래하여 통제되지 않는 세포 증식을 초래할 수 있다. p57KIP2는 벡위드위데만증후군 (BWS)과 연관돼 있으며, 어린 시절 종양 형성 위험이 높아진 것이 특징이다.[6] 이 유전자의 기능상실 돌연변이는 IMAGE 신드롬 (중외 성장 제한, 메타피탈 이형성증, 아드레날린 저포플라시아 착향성, 생식기 이상)과도 연관되어 있는 것으로 나타났다.[7] 완전한 수성형 몰은 부성 DNA로만 구성되며, 따라서 유전자가 판상하게 각인(침묵)되면서 세포의 p57 발현이 부족하다. p57용 임뮤오히스토케미컬 얼룩은 수성형 몰의 진단에 도움을 줄 수 있다.[8]
상호작용 사이클린 의존성 키나제 억제제 1C는 다음과 상호작용 하는 것으로 나타났다.
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