아세틸콜린에스테라아제 콜라겐 꼬리 펩타이드(ACHE Q 서브유닛 , 아세틸콜린에스테라아제 관련 콜라겐 또는 ColQ )는 신경근 접합부에서 발견되는 아세틸콜린에스테라아제의 콜라겐 꼬리 서브유닛이다.인간의 경우 COLQ [5] [6] 유전자 에 의해 암호화됩니다.
기능. 이 유전자는 골격근의 아세틸콜린에스테라아제 와 관련된 콜라겐 유사 분자의 서브유닛을 암호화한다. 각 분자는 3개의 동일한 서브 유닛으로 구성되어 있습니다. 각 서브유닛은 아세틸콜린에스테라아제 테트라머 를 결합하여 효소의 촉매 서브유닛을 기저적층체에 고정하는 프롤린 리치 애착 도메인(PRAD)을 포함한다. 이 [6] 아이소폼 을 코드하는 여러 개 의 전사 변형이 발견되었다.
임상적 의의 이 유전자의 돌연변이는 엔드플레이트 아세틸콜린에스테라아제 [6]
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