Gene: RSPH9

Alternate names for this Gene: C6orf206|CILD12|MRPS18AL1

Gene Summary: 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.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.1

Description of this Gene: radial spoke head component 9

Type of Gene: protein-coding

rs1233811324 in RSPH9 gene and Ciliary Motility Disorders PMID 24307375 2014 Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.