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Protein-coding gene in the species Homo sapiens
Radial spoke head 1 homolog (RSPH1), also known as cancer/testis antigen 79 (CT79) or testis-specific gene A2 protein (TSGA2), is a protein that in humans is encoded by the RSPH1 gene .[ 5]
This protein is a part of axoneme , which forms the core of a cilium or flagellum .
Clinical significance [ edit ] Mutations in RSPH1 are associated to Primary ciliary dyskinesia .[ 6]
^ a b c GRCh38: Ensembl release 89: ENSG00000160188 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024033 – Ensembl , May 2017^ "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 .^ "RSPH1 radial spoke head component 1 [ Homo sapiens (human) ]" .^ 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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