호모 사피엔스 종의 단백질 코드 유전자
포스파티딜이노시톨-4-인산5-키나아제 타입-1 감마(gamma)는 [5] [6] PIP5K1C 유전자에 의해 인체 내에서 코드되는 효소 이다.
이 유전자는 I형 포스파티딜이노시톨-4-인산5-키나아제 계열의 효소를 코드한다. 생쥐의 유사한 단백질은 시냅스 및 국소 접착 플라크에서 발견되며 탈린의 FERM 도메인 을 [6]
모델 유기체 모델 유기체는 PIP5K1C 기능의 연구에 사용되어 왔다.International Knockout Mouse Consortium 프로그램 의 일부로서 Pip5k1c 라고tm1a(KOMP)Wtsi [11] [12] 불리는 조건부 녹아웃 마우스 라인이 생성되었습니다.이것 은 질병 동물 모델을 생성하여 관심 있는 [13] [14] [15]
수컷과 암컷은 표준화된 표현형 검사를 통해 [9] [16] 돌연변이 생쥐에 대해 23개의 검사가 수행되었고 2개의 유의한 이상이 [9] 임신 기간 동안 예상보다 적은 수의 동종 접합 돌연변이 배아가 확인되었고, 젖 을 뗄 때까지 생존한 배아는 없었다. 나머지 테스트는 헤테로 접합 돌연변이 성인 생쥐를 대상으로 수행되었으며 더 이상의 표현형은 [9]
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