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词条 RSPH4A
释义

  1. Function

  2. Clinical significance

  3. References

  4. Further reading

  5. External links

{{Infobox_gene}}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 {{cite web | title = Entrez Gene: radial spoke head 4 homolog A (Chlamydomonas)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=345895| accessdate = }}
2. ^1 {{cite journal |vauthors=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 | title = Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities | journal = Am. J. Hum. Genet. | volume = 84 | issue = 2 | pages = 197–209 |date=February 2009 | pmid = 19200523 | pmc = 2668031 | doi = 10.1016/j.ajhg.2009.01.011 | url = | issn = }}

Further reading

{{refbegin | 2}}
  • {{cite journal |vauthors=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1996 |pmid= 8889548 |doi= 10.1101/gr.6.9.791}}
  • {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2002 |pmid= 12477932 |doi= 10.1073/pnas.242603899 |pmc=139241}}
  • {{cite journal |vauthors=Castleman VH, Romio L, Chodhari R, etal |title=Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities. |journal=Am. J. Hum. Genet. |volume=84 |issue= 2 |pages= 197–209 |year= 2009 |pmid= 19200523 |doi= 10.1016/j.ajhg.2009.01.011 |pmc=2668031}}
  • {{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
{{refend}}

External links

  • [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pcd GeneReviews/NCBI/NIH/UW entry on Primary Ciliary Dyskinesia]
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