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GeneQ18047289· pop 5· linked from 56 articles

Also known as RSHL2, RSP3, dJ111C20.1, CILD32, radial spoke 3 homolog, radial spoke head 3 homolog, radial spoke head 3

Radial spoke head protein 3 homolog (RSPH3), also known as radial spoke head-like protein 2 (RSHL2), is a protein that in humans is encoded by the RSPH3 gene.

Gene data

RSPH3
Name
radial spoke head 3
Type
protein-coding
Aliases
CILD32, RSHL2, RSP3, dJ111C20.1

The protein encoded by this gene acts as a protein kinase A anchoring protein. Mutations in this gene cause primary ciliary dyskinesia; a disorder characterized by defects of the axoneme in motile cilia and sperm flagella. The homolog of this gene was first identified in the blue-green algae Chlamydomonas as encoding a radial spoke protein that formed a structural component of motile cilia and flagella. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2016].

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Wikidata facts

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HomoloGene ID
12043
genomic end
159000202
genomic start
159393903
cytogenetic location
6q25.3
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Radial spoke head protein 3 homolog (RSPH3), also known as radial spoke head-like protein 2 (RSHL2), is a protein that in humans is encoded by the RSPH3 gene.

==References==

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