IFT43 : intraflagellar transport 43

Description

The IFT43 (intraflagellar transport 43) is a protein-coding gene located on chromosome 14.

The IFT43 gene provides instructions for making a protein involved in the formation and maintenance of cilia, tiny finger-like projections on cell surfaces. Cilia are essential for cell signaling and play a critical role in the development and function of various tissues, including the kidneys, liver, and retina. They also contribute to bone development, although the exact mechanism is unclear. IFT43 is part of the IFT-A complex, which is involved in intraflagellar transport (IFT), a process that moves materials within cilia. IFT-A carries materials from the tip to the base of cilia, a process crucial for the proper functioning of the Sonic Hedgehog signaling pathway, which is essential for cell growth, maturation, and development.

IFT43 is a component of IFT complex A (IFT-A), which is essential for retrograde ciliary transport, the movement of materials from the tip to the base of cilia. IFT-A is also required for the entry of G protein-coupled receptors (GPCRs) into cilia, a process involved in ciliogenesis. This retrograde transport occurs along microtubules within cilia.

IFT43 is also known as C14orf179, CED3, RP81, SRTD18.

Associated Diseases

Comprehensive carrier screening

WES Whole Exome Sequencing

Clinical Exome Sequencing