RSPH6A

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Radial spoke head 6 homolog A (Chlamydomonas)
Identifiers
Symbols RSPH6A ; RSHL1; RSP4; RSP6; RSPH4B
External IDs OMIM607548 MGI1927643 HomoloGene36476 GeneCards: RSPH6A Gene
RNA expression pattern
PBB GE RSHL1 220965 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 81492 83434
Ensembl ENSG00000104941 ENSMUSG00000040866
UniProt Q9H0K4 Q8CDR2
RefSeq (mRNA) NM_030785 NM_001159671
RefSeq (protein) NP_110412 NP_001153143
Location (UCSC) Chr 19:
46.3 – 46.32 Mb
Chr 7:
19.05 – 19.07 Mb
PubMed search [1] [2]

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[edit]

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[edit]

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

References[edit]

  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. ^ a b c "Entrez Gene: RSHL1 radial spokehead-like 1". 

Further reading[edit]

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