호모사피엔스 종의 단백질 코딩 유전자
맥쿠식-카우프만/바르데-비들 신드롬 putterative chaperonines 는 인간에서 MKS 유전자 에 의해 암호화된 단백질 이다.[4] [5]
이 유전자는 샤페로닌 계열과 유사한 염기서열을 가진 단백질을 암호화한다. 인코딩된 단백질은 사지, 심장 및 생식계 발달에 있어 단백질 처리의 역할을 할 수 있다. 이 유전자의 돌연변이는 바르데-비들 증후군 타입 6 과 맥쿠식-카우프만 증후군 을 가진 환자들에게서 관찰되었다. 이 유전자에 대해 동일한 단백질을 인코딩하는 두 가지 대본 변형이 확인되었다.[5]
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