Protein-coding gene in the species Homo sapiens
Radial spoke head protein 4 homolog A , also known asradial spoke head-like protein 3 , is aprotein that in humans is encoded by theRSPH4A gene .[ 5] [ 6]
TRadial spoke head protein 4 homolog A appears to be a component theradial spoke head, as determined by homology to similar proteins in the biflagellate algaChlamydomonas reinhardtii cilia , sperm, and flagellaaxonemes , consist of a thin 'stalk' and a bulbous 'head' that form a signal transduction scaffold between the central pair ofmicrotubules anddynein .[ 5]
Clinical significance [ edit ] Mutations in the RSPH4A gene are associated withprimary ciliary dyskinesia .[ 6]
^a b c GRCh38: Ensembl release 89: ENSG00000111834 –Ensembl , May 2017^a b c GRCm38: Ensembl release 89: ENSMUSG00000039552 –Ensembl , May 2017^ "Human PubMed Reference:" .National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" .National Center for Biotechnology Information, U.S. National Library of Medicine .^a b "Entrez Gene: radial spoke head 4 homolog A (Chlamydomonas)" .^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 2668031 PMID 19200523 . Bonaldo MF, Lennon G, Soares MB (1996)."Normalization and subtraction: two approaches to facilitate gene discovery" .Genome Res .6 (9):791– 806.doi :10.1101/gr.6.9.791 PMID 8889548 . Strausberg RL, Feingold EA, Grouse LH, et al. (2002)."Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences" .Proc. Natl. Acad. Sci. U.S.A .99 (26):16899– 903.Bibcode :2002PNAS...9916899M .doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . Castleman VH, Romio L, Chodhari R, et al. (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 . Ota T, Suzuki Y, Nishikawa T, et al. (2004)."Complete sequencing and characterization of 21,243 full-length human cDNAs" .Nat. Genet .36 (1):40– 5.doi :10.1038/ng1285 PMID 14702039 . This article incorporates text from theUnited States National Library of Medicine , which is in thepublic domain .
