IFT80 : intraflagellar transport 80

Description

The IFT80 (intraflagellar transport 80) is a protein-coding gene located on chromosome 3.

The IFT80 gene provides instructions for making a protein that is part of a group (complex) called IFT complex B. This complex is found in cell structures known as cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells. IFT complex B is involved in a process called intraflagellar transport (IFT), by which materials are carried within cilia. Specifically, this complex helps transport materials from the base of cilia to the tip. IFT is essential for the assembly and maintenance of cilia. These cell structures play central roles in many different chemical signaling pathways, including a series of reactions called the Sonic Hedgehog pathway. These pathways are important for the growth and division (proliferation) and maturation (differentiation) of cells. In particular, Sonic Hedgehog appears to be essential for the proliferation and differentiation of cells that ultimately give rise to cartilage and bone.

IFT80 is a protein component of the intraflagellar transport (IFT) complex B, essential for the development and maintenance of motile and sensory cilia.

IFT80 is also known as ATD2, CFAP167, FAP167, SRTD2, WDR56.

Associated Diseases

Comprehensive carrier screening

WES Whole Exome Sequencing

Clinical Exome Sequencing