호모 사피엔스 종의 단백질 코드 유전자
알파-액티닌-2 는 ACTN2 [5] 단백질 이다.이 유전자는 골격근과 심장근육에서 발현되는 알파-액틴 이소포름을 암호화하고 근섬유액틴을 얇은 필라멘트와 티틴 을 Z-디스크 에 고정하는 기능을 한다.
구조. 알파-액티닌-2는 아미노산 [6] [7] 각 분자는 막대 모양(길이 35 nm)이며 반평행 방식으로 균질화된다. 각 단량체는 2개의 칼포닌 호몰로지 도메인과 2개 의 C말단 EF 핸드 도메인과 4개 의 탠덤 스펙트린 형태의 반복으로 이루어진 [8] 인간 알파-액티닌 2의 3.5Ω에서의 고해상도 결정 구조가 최근에 [9] 알파 액티닌 은 스펙트린, 디스트로핀 , 우트로핀 및 [8] 핌브린 을 포함 한 액틴 결합 세포골격 단백질의 다양한 그룹을 나타내는 스펙트린 유전자 슈퍼패밀리에 속한다. 골격, 심장 및 평활근 아이소폼은 Z-디스크 와 유사한 밀도 있는 신체에 국소화되어 근섬유 액틴 필라멘트를 고정하는 데 도움이 됩니다. 알파-액티닌 2는 KCNA5,[10] [11] DLG1 ,[10] [12] MYOZ1 ,[13] GRIN2B ,[14] ADAM12 , ACTN3 ,[16] [17] PDLIM3 ,[18] [19] PKN ,[20] MYOT , TTN ,[21] [22] SYPO2 ,[23] L2 ,[24] [13] 상호작용 하는 것으로 나타났다 .
기능. 알파-액티닌-2의 주요 기능은 인지질에 [25] [26] Z-디스크 에서 인접한 육각류로부터 필라멘트 액틴 분자와 티틴 분자를 가교하는 것이다. Hampton 등의 연구에서 이러한 가교 작용은 60° 및 120° [27] 알파-액티닌-2는 또한 Z-디스크 에서 신호 전달 분자를 도킹하는 기능을 하며, 추가 연구도 알파-액티닌-2를 심장 이온 채널, 특히v [10] .5 의 결합에 포함시켰다.
임상적 의의 ACTN2 의 돌연변이는 확장형 심근증 [28] 심내막 섬유탄성증 뿐만 아니라 비후성 [29] 심근증 과 관련이 있다.알파-액티닌-2의 다양한 기능은 ACTN2 [30] 환자 의 다양한 임상 증상에 반영된다.
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PDB 갤러리
1h8b : 알파-액티닌에서 EF-HANDS 3,4 / 티틴에서 Z-반복 7
1hci : α-액티닌의 로드 도메인의 결정 구조
1quu : 알파액티닌으로부터의 2개의 중심 스펙트린상 반복체의 결정 구조
1tjt : 인간 알파-액틴 이소폼 3의 X선 구조(2)2A 해상도
1wku : 인간 알파-액티닌 이소폼 3의 고해상도 구조
