RSPH1

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

89765

22092

Ensembl

ENSG00000160188

ENSMUSG00000024033

UniProt

Q8WYR4

Q8VIG3

RefSeq (mRNA)

NM_001286506
NM_080860

NM_025290

RefSeq (protein)

NP_001273435.1
NP_543136.1

NP_079566.1

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

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

References

  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


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