호모 사피엔스 종의 단백질 코드 유전자
암/고환 항원 79(CT79) 또는 고환 특이 유전자 A2 단백질 (TSGA2)로도 알려진 방사형 스포크 헤드 1 호몰로그 (RSPH1)는 RSPH1 [5] 단백질 이다.
임상적 의의 RSPH1 의 돌연변이는 원발성 섬모성 [6] 운동장애와 관련 이 있다.
레퍼런스 ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG00000160188 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000024033 - 앙상블 , 2017년 5월^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Entrez Gene: radial spoke head 1 homolog (Chlamydomonas)" .^ Kott E, Legendre M, Copin B, Papon JF, Dastot-Le Moal F, Montantin G, Duquesnoy P, Piterboth W, Amram D, Bassinet L, Beucher J, Beydon N, Deneuville E, Houdouin V, Journel H, Just J, Nathan N, Tamalet A, Collot N, Jeanson L, Le Gouez M, Vallette B, Vojtek AM, Epaud R, Coste A, Clement A, Housset B, Louis B, Escudier E, Amselem S (September 2013). "Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects" . Am. J. Hum. Genet . 93 (3): 561–70. doi :10.1016/j.ajhg.2013.07.013 . PMC 3769924 PMID 23993197 .
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