이 유전자에 의해 암호화된 단백질은 세포사멸의 시작을 지연시키고 손상된 DNA의 동질 재조합 수리를 촉진한다.이 유전자의 돌연변이는 판코니 빈혈의 원인이 된다.[6]
FANCC 단백질(FANCA, FANCF, FANCG뿐만 아니라 FANCC 단백질도 포함된 핵단지가 단유입성 이소폼에 대한 FANCD2 단백질의 활성화에 필수적이다.[7]정상적이고 비혼합적인 경우, 세포 FANCD2는 DNA 손상에 반응하여 모노 입화된다.FANCC와 FANCC는 이 반응을 위한 기질 어댑터 역할을 한다. FANCC2 단백질은 감수성염색체의 시냅토네말 복합체 및 전리방사선 유도 포커스에서 BRCA1(양극암 수용성 단백질)과 공동 국소화한다.활성화된 FANCD2 단백질은 감수성 재조합을 시작하기 전에, 아마도 시냅시스를 위한 염색체를 준비하거나 후속 재조합 사건을 조절하기 위해 기능할 수 있다.[7]
FANCC(-/-) 돌연변이 수컷과 암컷 생쥐가 생식 발생을 저해해 판코니 빈혈 환자의 특징인 생식기능이 현저하게 손상됐다.[9]수컷과 암컷 FANCC 돌연변이 쥐 모두 세균 세포 수를 줄였다.[10]
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^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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