RSPH4A

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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 4 homolog A, also known as radial spoke head-like protein 3, is a protein that in humans is encoded by the RSPH4A gene.[1][2]

Function

TRadial spoke head protein 4 homolog A appears to be a component the radial spoke head, as determined by homology to similar proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates. Radial spokes, which are regularly spaced along cilia, sperm, and flagella axonemes, consist of a thin 'stalk' and a bulbous 'head' that form a signal transduction scaffold between the central pair of microtubules and dynein.[1]

Clinical significance

Mutations in the RSPH4A gene are associated with primary ciliary dyskinesia.[2]

References

  1. 1.0 1.1 "Entrez Gene: radial spoke head 4 homolog A (Chlamydomonas)".<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  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.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>

Further reading

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External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.