DNAI1
Function
Part of the dynein complex of respiratory cilia.
Involvement in disease
Ciliary dyskinesia, primary, 1
CILD1
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Kartagener syndrome
KTGS
An autosomal recessive disorder characterized by the association of primary ciliary dyskinesia with situs inversus. Clinical features include recurrent respiratory infections, bronchiectasis, infertility, and lateral transposition of the viscera of the thorax and abdomen. The situs inversus is most often total, although it can be partial in some cases (isolated dextrocardia or isolated transposition of abdominal viscera).
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the dynein intermediate chain family.
Tissue Specificity
Expressed in respiratory ciliated cells (at protein level).
Cellular localization
- Dynein axonemal particle
- Cytoplasm
- Cytoskeleton
- Cilium axoneme
Alternative names
Dynein axonemal intermediate chain 1, Axonemal dynein intermediate chain 1, DNAI1