Dolichol-phosphate mannosyl transferase는 인간에게 DPM1 유전자 에 의해 암호화된 효소 다.[5] [6] [7]
함수 돌리콜-인산염 만노오스(Dol-P-Man)는 내포체성 망막(ER)의 내강 쪽에 있는 만노실 잔류물의 기증자 역할을 한다. Dol-P-Man이 부족하면 GPI에 부착된 단백질의 표면 발현이 불량해진다. Dol-P-Man은 효소 Dolichyl-phosphate mannosyl transferase에 의해 ER의 세포설측 GDP-mannose 와 Dolichol-phosphate 에서 합성된다. 인간 DPM1은 카복시-단자 전송 영역과 신호 시퀀스가 부족하며 DPM2에 의해 규제된다.[7]
모형 유기체 모델 유기체 는 DPM1 기능 연구에 사용되어 왔다.Wellcome Trust Sanger Institute 에서 DPM1 이라는tm1b(KOMP)Wtsi 조건부 녹아웃 마우스 라인이 생성되었다.[8] 수컷과 암컷은 삭제 효과를 판단하기 위해 표준화된 표현식 화면 을[9] [10] [11] [12] [13] 수행된 추가 화면: - 심층 면역 표현식[14]
DPM1 녹아웃 마우스 표현형 특성 표현형 사용 가능한 모든 데이터:[9] [14] 말초혈구 백혈구 6주 정상 인슐린 정상 혈액학 정상 P14의 동질성 생존성 비정상적 열성 치사 연구비정상적 체중 정상 신경학적 평가 정상 그립 강도 정상 이형학 정상 간접열량측정법 정상 포도당 공차 검정 정상 청각 뇌계 반응 정상 덱사 정상 방사선 촬영 정상 눈 형태학 정상 임상화학 정상 혈액학 정상 말초혈구 백혈구 16주 정상 심장 무게 정상 살모넬라균 정상 세포독성 T세포 기능 정상 비장면역결찰 정상 중신 림프절 면역항진 정상 골수 면역항진법 정상 표피 면역 구성 정상
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