RSPH10B2 Chromosome 7

Radial spoke head 10 homolog B2
1 variant 1 Health Risk

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What This Gene Does
This gene encodes a protein component of the radial spoke head in flagella and motile cilia. Eukaryotic flagella and motile cilia share a common 9 + 2 structure, in which nine peripheral microtubule doublets (MTDs) surround a central-pair of microtubules (CP), with radial spokes connecting the MTDs to the CP. The radial spoke is a multi-protein complex that works as a mechanochemical transducer between the CP and the MTDs. The radial spoke contributes to the regulation of the activity of dynein motors, and thus to flagellar motility. PMID: 22754630 provides a good review of radial spokes. [provided by RefSeq, Jul 2017]
Gene Info
Gene Group
Axonemal radial spoke subunits
Locus Type
gene with protein product
Location
7p22.1
Ensembl
ENSG00000169402
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS369650101 Health Risk Conflicting classifications of pathogenicity
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