NP_001180270.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
31,292 Da
NCBI Official Full Name
radial spoke head protein 9 homolog isoform 2
NCBI Official Synonym Full Names
radial spoke head 9 homolog (Chlamydomonas)
NCBI Protein Information
radial spoke head protein 9 homolog
UniProt Protein Name
Radial spoke head protein 9 homolog
UniProt Synonym Gene Names
UniProt Entry Name
RSPH9_HUMAN
NCBI Summary for C6orf206
This gene encodes a protein thought to be a component of the radial spoke head in motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia 12. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]
UniProt Comments for C6orf206
RSPH9: Probable component of the axonemal radial spoke head. Radial spokes are regularly spaced along cilia, sperm and flagella axonemes. They consist of a thin stalk, which is attached to a subfiber of the outer doublet microtubule, and a bulbous head, which is attached to the stalk and appears to interact with the projections from the central pair of microtubules. Defects in RSPH9 are the cause of primary ciliary dyskinesia type 12 (CILD12). CILD is an autosomal recessive disorder characterized by axonemal abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit situs inversus, due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. Belongs to the flagellar radial spoke RSP9 family. 2 isoforms of the human protein are produced by alternative splicing.
Chromosomal Location of Human Ortholog: 6p21.1
Cellular Component: cytoskeleton; axoneme
Biological Process: axoneme biogenesis
Disease: Ciliary Dyskinesia, Primary, 12
Research Articles on C6orf206
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Products associated with C6orf206 elisa kit
Diseases associated with C6orf206 elisa kit
Organs/Tissues associated with C6orf206 elisa kit
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