RSPH6A

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Radial spoke head protein 6 homolog A (RSPH6A) also known as radial spoke head-like protein 1 (RSHL1) is a protein that in humans is encoded by the RSPH6A gene.[1][2]

Function

Radial spoke head protein 6 homolog A is similar to a sea urchin radial spoke head protein. Radial spoke protein complexes form part of the axoneme of eukaryotic flagella and are located between the axoneme's outer ring of doublet microtubules and central pair of microtubules. In Chlamydomonas, radial spoke proteins are thought to regulate the activity of dynein and the symmetry of flagellar bending patterns.[2]

Clinical significance

The RSPH6A gene maps to a region of chromosome 19 that is linked to primary ciliary dyskinesia-2 (CILD2).[2]

References

  1. Eriksson M, Ansved T, Anvret M, Carey N (Mar 2001). "A mammalian radial spokehead-like gene, RSHL1, at the myotonic dystrophy-1 locus". Biochem Biophys Res Commun. 281 (4): 835–41. doi:10.1006/bbrc.2001.4465. PMID 11237735.
  2. 2.0 2.1 2.2 "Entrez Gene: RSHL1 radial spokehead-like 1".

Further reading

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



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