RSPH9

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RSPH9
Identifiers
Aliases RSPH9, C6orf206, CILD12, MRPS18AL1, radial spoke head 9 homolog
External IDs MGI: 1922814 HomoloGene: 12606 GeneCards: RSPH9
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001193341
NM_152732

NM_029338

RefSeq (protein)

NP_001180270
NP_689945

NP_083614.1
NP_083614

Location (UCSC) Chr 6: 43.65 – 43.67 Mb Chr 17: 46.12 – 46.14 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Radial spoke head protein 9 homolog is a protein that in humans is encoded by the RSPH9 gene.[3][4]

Function[edit]

This gene encodes a protein thought to be a component of the radial spoke head in motile cilia and flagellawhich then releases antibodies .[3]

Clinical significance[edit]

Mutation in this gene are associated with primary ciliary dyskinesia.[4]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ a b "Entrez Gene: radial spoke head 9 homolog (Chlamydomonas)". 
  4. ^ a b 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 2668031Freely accessible. PMID 19200523. 

Further reading[edit]

External links[edit]