DNAH11
Encyclopedia
Dynein heavy chain 11, axonemal is a protein
that in humans is encoded by the DNAH11 gene
.
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
(PCD, formerly called 'immotile cilia syndrome') and Kartagener syndrome (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.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in humans is encoded by the DNAH11 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
Function
This gene encodes a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPaseATPase
ATPases are a class of enzymes that catalyze the decomposition of adenosine triphosphate into adenosine diphosphate and a free phosphate ion. This dephosphorylation reaction releases energy, which the enzyme harnesses to drive other chemical reactions that would not otherwise occur...
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
Primary ciliary dyskinesia , also known as immotile ciliary syndrome or Kartagener Syndrome ', is a rare, ciliopathic, autosomal recessive genetic disorder that causes a defect in the action of the cilia lining the respiratory tract and fallopian tube, and also of the flagella of sperm in...
(PCD, formerly called 'immotile cilia syndrome') and Kartagener syndrome (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.