Dynein axonemal intermediate chain 2 also known as axonemal dynein intermediate chain 2, 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 ''DNAI2''
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
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.
Clinical significance
Mutations in the ''DNAI2'' gene are associated with
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 ...
.
References
External links
GeneReviews/NCBI/NIH/UW entry on Primary Ciliary Dyskinesia
{{gene-17-stub