background:
IFT140 is a gene encodes one of the subunits of the intraflagellar transport (IFT) complex A. Intraflagellar transport is involved in the genesis, resorption and signaling of primary cilia. The primary cilium is a microtubule-based sensory organelle at the surface of most quiescent mammalian cells, that receives signals from its environment, such as the flow of fluid, light or odors, and transduces those signals to the nucleus. Loss of the corresponding protein in mouse results in renal cystic disease.
Function:
Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport. Plays a pivotal role in proper development and function of ciliated cells. Involved in ciliogenesis and cilia maintenance.
Subunit:
Component of the IFT complex A (IFT-A).
Subcellular Location:
Cytoplasm, cytoskeleton, cilium basal body.
DISEASE:
Mainzer-Saldino syndrome (MZSDS) [MIM:266920]: A rare autosomal recessive disease characterized by phalangeal cone-shaped epiphyses, chronic renal disease, nearly constant retinal dystrophy, and mild radiographic abnormality of the proximal femur. Occasional features include short stature, cerebellar ataxia, and hepatic fibrosis. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Contains 9 TPR repeats.
Contains 5 WD repeats.
Database links:
Entrez Gene: 9742 Human
Entrez Gene: 106633 Mouse
SwissProt: Q96RY7 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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