Summary
Performance
Immunogen
Application
Background
The protein encoded by this gene belongs to the dynein intermediate chain family, and is part of the dynein complex of respiratory cilia and sperm flagella. Mutations in this gene are associated with primary ciliary dyskinesia type 9. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010],disease:Defects in DNAI2 are the cause of primary ciliary dyskinesia type 9 (CILD9) [MIM:612444]. CILD is an autosomal recessive disorder characterized by axonemal 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.,function:Part of the dynein complex of respiratory cilia.,sequence caution:Intron retention.,similarity:Belongs to the dynein intermediate chain family.,similarity:Contains 5 WD repeats.,subunit:Consists of at least two heavy chains and a number of intermediate and light chains. Interacts with KTU.,tissue specificity:Highly expressed in trachea and testis.,
Research Area
Huntington's disease;
