IFT80
Encyclopedia
Intraflagellar transport protein 80 homolog (IFT80), also known as WD repeat-containing protein 56, is a protein
that in humans is encoded by the IFT80 gene
.
.
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 IFT80 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
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 dysplasiaAsphyxiating thoracic dysplasia
Asphyxiating thoracic dysplasia or Jeune syndrome is a ciliopathy.It is also known as "Jeune syndrome".It was characterized in 1955.Types include:...
.