RSPH1

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RSPH1
Identifiers
Aliases RSPH1, CILD24, RSP44, RSPH10A, TSA2, TSGA2, CT79, radial spoke head 1 homolog
External IDs MGI: 1194909 HomoloGene: 11905 GeneCards: RSPH1
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001286506
NM_080860

NM_025290

RefSeq (protein)

NP_001273435
NP_543136

NP_079566.1
NP_079566

Location (UCSC) Chr 21: 42.47 – 42.5 Mb Chr 17: 31.26 – 31.28 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

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.[3]

Clinical significance[edit]

Mutations in RSPH1 are associated to Primary ciliary dyskinesia .[4]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ "Entrez Gene: radial spoke head 1 homolog (Chlamydomonas)". 
  4. ^ 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. PMID 23993197. 

Further reading[edit]