RSPH9 gene

radial spoke head 9 homolog

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Ciliary dyskinesia, primary, 12

From UniProt:

Ciliary dyskinesia, primary, 12 (CILD12): A disorder characterized by 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. [MIM:612650]

Cytogenetic Location: 6p21.1, which is the short (p) arm of chromosome 6 at position 21.1

Molecular Location: base pairs 43,645,030 to 43,671,011 on chromosome 6 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 6p21.1, which is the short (p) arm of chromosome 6 at position 21.1
  • C6orf206
  • CILD12
  • MRPS18AL1