DNAI2 Antibody – Rabbit

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]

DNAI2: Part of the dynein complex of respiratory cilia. Defects in DNAI2 are the cause of primary ciliary dyskinesia type 9 (CILD9). 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. Belongs to the dynein intermediate chain family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Motor; Motility/polarity/chemotaxis; Microtubule-binding

Chromosomal Location of Human Ortholog: 17q25

Cellular Component: microtubule; axonemal dynein complex; axoneme

Molecular Function: protein binding; microtubule motor activity

Biological Process: metabolic process; cilium biogenesis

Disease: Ciliary Dyskinesia, Primary, 9