Intraflagellar transport protein 80 homolog (IFT80), also known as WD repeat-containing protein 56, 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 ''IFT80''
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
IFT80 is part of the intraflagellar transport complex B and is necessary for the function of motile and sensory cilia.
Clinical significance
Mutations in the ''IFT80'' gene are associated with
asphyxiating thoracic dysplasia
Asphyxiating thoracic dysplasia (ATD), also known as Jeune syndrome, is a rare inherited bone growth disorder (autosomal recessive skeletal dysplasia) that primarily affects the thoracic region. It was first described in 1955 by the French ped ...
.
References
Further reading
*
*
*
*
*
{{gene-3-stub