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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

RSPH6A  -  radial spoke head 6 homolog A (Chlamydomonas)

Homo sapiens

Synonyms: RSHL1, RSP4, RSP6, RSPH4B, Radial spoke head protein 6 homolog A, ...
 
 
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Disease relevance of RSHL1

  • We suggest that this gene, which we have called Radial Spokehead-Like 1 (RSHL1), is a candidate gene for familial primary ciliary dyskinesia [1].
 

High impact information on RSHL1

  • However, the sea urchin protein possesses structural features distinct from RSP4 and RSP6, such as the presence of three major acidic stretches which contains 25, 17, and 12 aspartate and glutamate residues of 34-, 22-, and 14-amino acid long stretches, respectively, that are predicted to form alpha-helical coiled-coil secondary structures [2].

References

  1. A mammalian radial spokehead-like gene, RSHL1, at the myotonic dystrophy-1 locus. Eriksson, M., Ansved, T., Anvret, M., Carey, N. Biochem. Biophys. Res. Commun. (2001) [Pubmed]
  2. Molecular cloning and characterization of a radial spoke head protein of sea urchin sperm axonemes: involvement of the protein in the regulation of sperm motility. Gingras, D., White, D., Garin, J., Cosson, J., Huitorel, P., Zingg, H., Cibert, C., Gagnon, C. Mol. Biol. Cell (1998) [Pubmed]
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