RSPH9: Difference between revisions

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Latest revision as of 21:45, 5 July 2018

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Radial spoke head protein 9 homolog is a protein that in humans is encoded by the RSPH9 gene.[1][2]

Function

This gene encodes a protein thought to be a component of the radial spoke head in motile cilia and flagellawhich then releases antibodies .[1]

Clinical significance

Mutation in this gene are associated with primary ciliary dyskinesia.[2]

References

  1. 1.0 1.1 "Entrez Gene: radial spoke head 9 homolog (Chlamydomonas)".
  2. 2.0 2.1 Castleman VH, Romio L, Chodhari R, Hirst RA, de Castro SC, Parker KA, Ybot-Gonzalez P, Emes RD, Wilson SW, Wallis C, Johnson CA, Herrera RJ, Rutman A, Dixon M, Shoemark A, Bush A, Hogg C, Gardiner RM, Reish O, Greene ND, O'Callaghan C, Purton S, Chung EM, Mitchison HM (February 2009). "Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities". Am. J. Hum. Genet. 84 (2): 197–209. doi:10.1016/j.ajhg.2009.01.011. PMC 2668031. PMID 19200523.

Further reading

External links