RSPH4A

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

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.[5][6]

AliasesRSPH4A, CILD11, RSHL3, RSPH6B, dJ412I7.1, radial spoke head 4 homolog A, radial spoke head component 4A
End116,632,985 bp[1]
Quick facts Identifiers, Aliases ...
RSPH4A
Identifiers
AliasesRSPH4A, CILD11, RSHL3, RSPH6B, dJ412I7.1, radial spoke head 4 homolog A, radial spoke head component 4A
External IDsOMIM: 612647; MGI: 3027894; HomoloGene: 71779; GeneCards: RSPH4A; OMA:RSPH4A - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001010892
NM_001161664

NM_001162957

RefSeq (protein)

NP_001010892
NP_001155136

NP_001156429

Location (UCSC)Chr 6: 116.62 – 116.63 MbChr 10: 33.78 – 33.79 Mb
PubMed search[3][4]
Wikidata
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Function

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.[5]

Clinical significance

Mutations in the RSPH4A gene are associated with primary ciliary dyskinesia.[6]

References

Further reading

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