DNAAF5 gene

dynein axonemal assembly factor 5

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

From NCBI Gene:

The protein encoded by this gene is essential for the preassembly or stability of axonemal dynein arms, and is found only in organisms with motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia-18, a disorder characterized by abnormalities of motile cilia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]

From UniProt:

Cytoplasmic protein involved in the delivery of the dynein machinery to the motile cilium. It is required for the assembly of the axonemal dynein inner and outer arms, two structures attached to the peripheral outer doublet A microtubule of the axoneme, that play a crucial role in cilium motility.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Ciliary dyskinesia, primary, 18

From UniProt:

Ciliary dyskinesia, primary, 18 (CILD18): 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 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:614874]

Cytogenetic Location: 7p22.3, which is the short (p) arm of chromosome 7 at position 22.3

Molecular Location: base pairs 726,701 to 786,479 on chromosome 7 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 7p22.3, which is the short (p) arm of chromosome 7 at position 22.3
  • CILD18
  • HEATR2