Dynein axonemal heavy chain 5 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, respo ...
that in humans is encoded by the ''DNAH5''
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 ba ...
.
''DNAH5'' is a protein-coding gene.
1 It provides the instructions for synthesizing a protein that belongs to a
microtubule-associated protein In cell biology, microtubule-associated proteins (MAPs) are proteins that interact with the microtubules of the cellular cytoskeleton. MAPs are integral to: the stability of the cell and its internal structures and the transport of components within ...
complex made of heavy, light and intermediate chains.
2 ''DNAH5'' is responsible for making the heavy chain 5, found within the outer
dynein arms
Dyneins are a family of cytoskeletal motor proteins that move along microtubules in cells. They convert the chemical energy stored in ATP to mechanical work. Dynein transports various cellular cargos, provides forces and displacements important ...
of
cilia
The cilium, plural cilia (), is a membrane-bound organelle found on most types of eukaryotic cell, and certain microorganisms known as ciliates. Cilia are absent in bacteria and archaea. The cilium has the shape of a slender threadlike projecti ...
.
1 It will function as a force generating protein by using ATP, producing the power stroke for cilia.
3
During early development, the cilia found on the primitive node will beat in a directional pattern, sending signaling molecules to the left, this process will begin to establish the internal
left-right asymmetry
Left-right asymmetry, (LR asymmetry) is the process in early embryonic development that Homochirality#Symmetry breaking, breaks the normal symmetry in the Symmetry#In biology, bilateral embryo. In vertebrates, left-right asymmetry is established e ...
.
3
Mutations in ''DNAH5'' are linked to
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 ...
, an autosomal recessive disorder.
4 This X-linked disorder is characterized by recurrent
respiratory infections
Respiratory tract infections (RTIs) are infectious diseases involving the respiratory tract. An infection of this type usually is further classified as an upper respiratory tract infection (URI or URTI) or a lower respiratory tract infection (LRI ...
,
infertility
Infertility is the inability of a person, animal or plant to reproduce by natural means. It is usually not the natural state of a healthy adult, except notably among certain eusocial species (mostly haplodiploid insects). It is the normal state ...
, and abnormal organ placement.
1 Non-functional DNAH5 proteins have been identified in individuals with primary ciliary dyskinesia and randomized
left-right asymmetry
Left-right asymmetry, (LR asymmetry) is the process in early embryonic development that Homochirality#Symmetry breaking, breaks the normal symmetry in the Symmetry#In biology, bilateral embryo. In vertebrates, left-right asymmetry is established e ...
.
4
References
[Xu X, Gong P, Wen J. Clinical and genetic analysis of a family with Kartagener syndrome caused by novel DNAH5 mutations. Journal of Assisted Reproduction and Genetics. 2016;34(2):275-281. doi:10.1007/s10815-016-0849-3.]
External links
GeneReviews/NIH/NCBI/UW entry on Primary Ciliary Dyskinesia
Further reading
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