RSPH6A

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RSPH6A
Identifiers
Aliases RSPH6A, RSHL1, RSP4, RSP6, RSPH4B, radial spoke head 6 homolog A
External IDs MGI: 1927643 HomoloGene: 36476 GeneCards: RSPH6A
RNA expression pattern
PBB GE RSHL1 220965 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_030785

NM_001159671
NM_031255

RefSeq (protein)

NP_110412

NP_001153143.1
NP_112545.2
NP_001153143
NP_112545

Location (UCSC) Chr 19: 45.8 – 45.82 Mb Chr 7: 19.05 – 19.07 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

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.[3][4]

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.[4]

Clinical significance[edit]

The RSPH6A gene maps to a region of chromosome 19 that is linked to primary ciliary dyskinesia-2 (CILD2).[4]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ 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.