AP-3 복합 서브유닛 mu-1 은 사람 에게서 AP3M1 유전자에 [5] [6] 의해 암호화되는 단백질 이다.
이 유전자에 의해 코드된 단백질은 AP-3의 중간 서브유닛으로, 골지 영역과 더 말초 세포 내 구조와 관련된 어댑터 관련 단백질 복합체이다. AP-3는 골지막에서 소포의 발아를 촉진하고 내염색체 /리소좀계 로의 단백질 분류에 직접 관여할 수 있다. AP-3는 2개의 큰 서브유닛(델타 및 베타3 ), 중간 서브유닛(mu3 ) 및 작은 서브유닛(시그마3 )으로 이루어진 헤테로전자 단백질 복합체이다. AP-3의 큰 서브유닛 중 하나의 돌연변이는 결함이 있는 리소좀 관련 오르가넬 로 특징지어지는 유전 질환인 헤르만스키-푸들락 증후군과 연관되어 있다. 동일한 단백질을 코드하는 대체적으로 스플라이스된 전사 변이가 [6] 관찰되었다.
레퍼런스 외부 링크
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