호모 사피엔스 종의 단백질 코드 유전자
베타-키마에린 은 CHN2 [4] [5] 유전자에 의해 인간에게 암호화되는 단백질 이다.
이 유전자는 키메린 계열의 일원으로 포볼에스테르/DAG형 아연 핑거, Rho-GAP 도메인 및 SH2 도메인을 가진 단백질을 암호화한다. 이 단백질은 인지질 결합에 의해 조절되는 GTPase 활성화 단백질 활성을 가지며 디아실글리세롤(DAG) 결합은 세포질에서 골지 장치막으로의 단백질 전위를 유도한다. 그 단백질은 평활근 세포의 증식과 이동에 역할을 한다. 이 유전자의 발현 감소는 고악성 교종 및 유방 종양과 관련되며, 이 유전자의 발현 증가는 림프종과 관련된다. 이 유전자의 돌연변이는 남성의 정신분열증과 관련이 있다. 다른 Isoform을 인코딩하는 대체 전사 스플라이스 변형이 [5] 특징지어졌습니다.
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