Dynein heavy chain 11, axonemal is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, res ...
that in humans is encoded by the ''DNAH11''
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
Function
This gene encodes 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
primary ciliary dyskinesia
Primary ciliary dyskinesia (PCD) is a rare, autosomal recessive genetic ciliopathy, that causes defects in the action of cilia lining the upper and lower respiratory tract, sinuses, Eustachian tube, middle ear, Fallopian tube, and flagella of sper ...
(PCD, formerly called 'immotile cilia syndrome') and
Kartagener syndrome
Primary ciliary dyskinesia (PCD) is a rare, autosomal recessive genetic ciliopathy, that causes defects in the action of cilia lining the upper and lower respiratory tract, sinuses, Eustachian tube, middle ear, Fallopian tube, and flagella of ...
(PCD with ''situs ''inversus'' totalis''). Males with PCD are not sterile, but are infertile due to lack of sperm motility.
There are reports of subfertility and increased risk of ectopic pregnancy in women with PCD.
References
Further reading
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External links
GeneReviews/NCBI/NIH/UW entry on Primary Ciliary Dyskinesia
{{Ciliary proteins