Cilia and flagella associated protein 20 (CFAP20)

CFAP20 (Cilia and flagella associated protein 20) is a structural protein localized within the axoneme of cilia and flagella, particularly at the inner junction between the A and B tubules of microtubule doublets[1][2][3]. It is essential for the organization and structural integrity of both motile and non-motile cilia, functioning as a microtubule inner protein (MIP) and scaffolding complex components involved in the regulation of ciliary and flagellar motility and morphology[1][2][3]. Mutations in CFAP20 disrupt axonemal structure, causing abnormalities in ciliary function, which leads to clinical manifestations including inherited retinal dystrophy and other ciliopathies in humans and animal models[2][3]. CFAP20’s activity also involves regulation of protein polyglutamylation, and it is implicated in sensory signaling, organismal development, and regulation of specific behaviors such as feeding[2][3]. While it has not been defined as a therapeutic drug target or receptor, it serves as a key structural and functional protein for understanding cilia-related diseases[3].

Other names

BUG22C16orf80GTL3fSAP23Basal body up-regulated protein 22Transcription factor IIBfunctional spliceosome-associated protein 23flagellar associated protein 20 homolog (Chlamydomonas)EVORFUPF0468 protein C16orf80gene trap locus 3