DNAH11 Antibody – Goat Polyclonal

This gene encodes a ciliary outer dynein arm protein and is a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. Mutations in this gene have been implicated in causing Kartagener Syndrome (a combination of situs inversus totalis and Primary Ciliary Dyskinesia (PCD), also called Immotile Cilia Syndrome 1 (ICS1)) and male sterility. [provided by RefSeq, Mar 2013]

DNAH11: Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Defects in DNAH11 are a cause of Kartagener syndrome (KTGS). KTGS is 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). Defects in DNAH11 are the cause of primary ciliary dyskinesia type 7 (CILD7). 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 heavy chain family.

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

Chromosomal Location of Human Ortholog: 7p21

Cellular Component: cytoplasm; dynein complex; microtubule; motile primary cilium

Molecular Function: ATP binding; ATPase activity; microtubule motor activity

Biological Process: determination of left/right symmetry; heart development; metabolic process; sperm motility

Disease: Ciliary Dyskinesia, Primary, 7