Aliases for RSPH9 Gene
External Ids for RSPH9 Gene
Previous HGNC Symbols for RSPH9 Gene
Previous GeneCards Identifiers for RSPH9 Gene
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]
GeneCards Summary for RSPH9 Gene
RSPH9 (Radial Spoke Head 9 Homolog) is a Protein Coding gene. Diseases associated with RSPH9 include Ciliary Dyskinesia, Primary, 12 and Primary Ciliary Dyskinesia12: Rsph9-Related Primary Ciliary Dyskinesia.
UniProtKB/Swiss-Prot for RSPH9 Gene
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.