RSPH4A

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RSPH4A
Identifiers
Aliases RSPH4A, CILD11, RSHL3, RSPH6B, dJ412I7.1, radial spoke head 4 homolog A
External IDs MGI: 3027894 HomoloGene: 71779 GeneCards: RSPH4A
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001010892
NM_001161664

NM_001162957

RefSeq (protein)

NP_001010892
NP_001155136

NP_001156429.1
NP_001156429

Location (UCSC) Chr 6: 116.62 – 116.63 Mb Chr 10: 33.91 – 33.92 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

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.[3][4]

Function[edit]

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.[3]

Clinical significance[edit]

Mutations in the RSPH4A 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 4 homolog A (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]

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