C21orf59 gene

chromosome 21 open reading frame 59

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

From NCBI Gene:

This gene a protein plays a critical role in dynein arm assembly and motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. [provided by RefSeq, Nov 2013]

From UniProt:

May play a role in motile cilia function, possibly by acting on dynein arm assembly.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Ciliary dyskinesia, primary, 26

From UniProt:

Ciliary dyskinesia, primary, 26 (CILD26): 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. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. [MIM:615500]

Cytogenetic Location: 21q22.1, which is the long (q) arm of chromosome 21 at position 22.1

Molecular Location: base pairs 32,601,674 to 32,612,608 on chromosome 21 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 21q22.1, which is the long (q) arm of chromosome 21 at position 22.1
  • C21orf48
  • CILD26
  • FBB18
  • Kur