IFT140 : intraflagellar transport 140
Description
The IFT140 (intraflagellar transport 140) is a protein-coding gene located on chromosome 16.
The IFT140 gene provides instructions for making a protein involved in the formation and maintenance of cilia. Cilia are microscopic projections extending from the surface of cells, participating in signaling pathways that transmit information within and between cells. They are essential for various cell types, including those in the kidneys, liver, and brain. Photoreceptor cells in the retina also contain cilia, critical for normal vision. Cilia play a role in bone development, though the mechanism remains unclear. The movement of substances within cilia and flagella is called intraflagellar transport, crucial for assembling and maintaining these structures. Cells utilize IFT particles, composed of proteins from the IFT gene family, to transport materials to and from cilia tips. IFT particles consist of two groups of IFT proteins: complex A and complex B. The protein produced from the IFT140 gene is part of IFT complex A (IFT-A).
IFT140 is a component of the IFT complex A (IFT-A), which is essential for retrograde ciliary transport and the entry of G protein-coupled receptors (GPCRs) into cilia. This protein plays a crucial role in the development and function of ciliated cells by participating in ciliogenesis and cilium maintenance. IFT140 is required for the development and maintenance of the outer segments of rod and cone photoreceptor cells, and it is involved in the delivery of opsin to the outer segment of photoreceptor cells.
IFT140 is also known as MZSDS, RP80, SRTD9, WDTC2, c305C8.4, c380F5.1, gs114.
Associated Diseases
- Short-rib thoracic dysplasia 9 with or without polydactyly
- Retinitis pigmentosa 80
- Jeune syndrome
- Autosomal dominant polycystic kidney disease
- Retinitis pigmentosa
- Leber congenital amaurosis
- Asphyxiating thoracic dystrophy
- Mainzer-Saldino syndrome
