호모사피엔스 종의 유전자
Krev 상호작용 함몰 단백질 1 은 인간 에게 CCM1 유전자에 의해 암호화된 단백질 이다.[4] [5] [6] 이 유전자는 16개의 코딩 exon을 포함하고 있으며 7q21.2 염색체에 위치한다. CCM1 의 기능 돌연변이가 상실되면 대뇌 동굴 기형 이 시작된다.[7] 뇌 동굴 기형(CCMs)은 확장된 모세혈관 혈관으로 만들어진 뇌와 척수에 있는 혈관 기형이다.
상호작용 정상 CCM1 단백질인 KRIT1(Krev Interaction Packed)은 길이 736개의 아미노산으로 다양한 기능을 가지고 있다. KRIT1은 ITGB1BP1 ,[8] [9] [10] [11] 상호작용 하는 것으로 나타났다.[12] CCM 질환과 관련하여, 이 단백질은 혈관조직의 구조적 무결성을 유지하기 위해 필요하다.[13] [14]
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