RSPH1 gene

radial spoke head 1 homolog

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

From NCBI Gene:

This gene encodes a male meiotic metaphase chromosome-associated acidic protein. This gene is expressed in tissues with motile cilia or flagella, including the trachea, lungs, airway brushings, and testes. Mutations in this gene result in primary ciliary dyskinesia-24. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]

From UniProt:

May play an important role in male meiosis (By similarity). It is necessary for proper building of the axonemal central pair and radial spokes.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Primary ciliary dyskinesia 24

From UniProt:

Ciliary dyskinesia, primary, 24 (CILD24): 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. Situs inversus is not observed in CILD24 patients. [MIM:615481]

Cytogenetic Location: 21q22.3, which is the long (q) arm of chromosome 21 at position 22.3

Molecular Location: base pairs 42,472,486 to 42,496,354 on chromosome 21 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 21q22.3, which is the long (q) arm of chromosome 21 at position 22.3
  • CT79
  • RSP44
  • RSPH10A
  • TSA2
  • TSGA2