DNAI2
Encyclopedia
Dynein intermediate chain 2, axonemal, also known as axonemal dynein intermediate chain 2, is a protein
that in humans is encoded by the DNAI2 gene
.
complex of respiratory cilia and sperm flagella.
.
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 DNAI2 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...
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Function
The protein encoded by this gene belongs to the dynein intermediate chain family, and is part of the dyneinDynein
Dynein is a motor protein in cells which converts the chemical energy contained in ATP into the mechanical energy of movement. Dynein transports various cellular cargo by "walking" along cytoskeletal microtubules towards the minus-end of the microtubule, which is usually oriented towards the cell...
complex of respiratory cilia and sperm flagella.
Clinical significance
Mutations in the DNAI2 gene are associated with primary ciliary dyskinesiaPrimary 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...
.