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Intraflagellar transport protein 140 homolog (IFT140)
- Target
- IFT140
- Molecular classification
- Other (Component of the intraflagellar transport (IFT) complex A; not a conventional receptor, enzyme, transporter, or channel)
01
Overview
Intraflagellar transport protein 140 homolog (IFT140) is a core component of the IFT-A complex, which is critical for retrograde intraflagellar transport in the primary cilium and flagella[2][3][4][5]. IFT140 enables the assembly, maintenance, and function of cilia—microtubule-based organelles present on most mammalian cells that are involved in signal transduction and organ function across systems including the kidney, retina, skeletal system, and male reproductive tract[1][2][3][5]. Loss or dysfunction of IFT140 impairs ciliary transport, affecting hedgehog and other cilia-dependent pathways, resulting in a spectrum of genetic disorders known as ciliopathies (e.g., Mainzer-Saldino syndrome, retinitis pigmentosa, short-rib thoracic dysplasia, and male infertility)[1][2][3][5]. IFT140 is not a direct drug target, but loss-of-function mutations are clinically relevant in human genetic disease.
- Other names
- KIAA0590WDTC2gs114WD and tetratricopeptide repeats protein 2CED5MZSDSPKD9RP80SRTD9c305C8.4c380F5.1
02
Biological functions
Ciliogenesis (formation and maintenance of cilia)Intraflagellar transport (essential for retrograde transport within cilia and flagella)Signal transduction via cilia (involved in sensory pathways, e.g., Hedgehog signaling)Spermiogenesis (flagella formation in sperm)Development of photoreceptors in the retinaOrganelle biogenesis and maintenance
03
Disease associations
Ciliopathy (collection of disorders involving defective cilia)Mainzer-Saldino syndrome (skeletal, renal, and retinal defects)Short-rib thoracic dysplasia (with/without polydactyly)Retinitis pigmentosaJeune syndrome and Leber congenital amaurosisMale infertility (role in spermiogenesis)
04
Safety considerations
Genetic mutations can lead to multisystem disorders (ciliopathies affecting kidney, skeletal, eye, and reproductive development)No direct therapeutic interventions targeting IFT140 reported; gene therapy may be a future consideration for related genetic diseases.
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