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Intraflagellar transport protein 46 homolog (IFT46)

Target: IFT46
Molecular classification: Other (IFT46 is a core structural protein and part of the IFT-B protein complex responsible for ciliary and flagellar assembly and transport[1][2][5])

Overview

Intraflagellar transport protein 46 homolog (IFT46) is a highly conserved, non-enzymatic core structural component of the intraflagellar transport complex B (IFT-B), which is essential for the assembly, maintenance, and function of cilia and flagella[1][2][5]. It forms a stable subcomplex with IFT88 and IFT52, enabling the pre-assembly and trafficking of protein cargos, such as the outer dynein arms, along the ciliary axoneme[1][3]. IFT46 is responsible for mediating protein-protein interactions needed for proper ciliary trafficking, and its absence results in defects in ciliogenesis, leading to multiple developmental disorders and human ciliopathies[2]. It is not known to be directly targeted by any drugs or considered a therapeutic target, but its dysfunction is implicated in disorders arising from defective cilia assembly and function[2][5].

Other names: C11orf2C11orf60FLJ21827FAP32CFAP32cilia and flagella associated protein 32UPF0360

Biological functions

Cilia assembly and maintenance[1][2][5]Intraflagellar transport (anterograde cargo trafficking in cilia/flagella)[1][3][5]Protein-protein interactions for ciliary cargo recognition and motor entry[1][3]Ciliogenesis (initiation of cilia formation)[2]

Disease associations

Ciliopathies (including polycystic kidney disease, primary ciliary dyskinesia, hydrocephalus, left-right axis patterning defects, retinal degeneration)[2]Developmental defects involving brain, neural tube, heart (as observed in IFT46-deficient animals)[2]

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