Target intelligence / Profile preview

Cilia- and flagella-associated protein 70 (CFAP70)

Target
CFAP70
Molecular classification
Other (Cilia- and flagella-associated structural protein), Tetratricopeptide repeat-containing protein
01

Overview

Cilia- and flagella-associated protein 70 (CFAP70) is a structural protein enriched in motile cilia and sperm flagella, characterized by multiple tetratricopeptide repeat (TPR) domains that mediate protein–protein interactions[1][2]. CFAP70 localizes strongly to the axonemal cytoskeleton in cilia, where it acts as a regulatory component for the outer dynein arm (ODA) machinery, influencing the motility of cilia and flagella[1][2]. Knockdown or genetic disruption of CFAP70 leads to impaired ciliogenesis, decreased ciliary beating, disruption of axonemal structure, male infertility (due to flagellar biogenesis defects in spermatids), and hydrocephalus due to functional loss in brain cilia[2]. It interacts with the flagellar assembly machinery and stabilizes partner proteins such as QRICH2[2]. While not a classical drug target, pathogenic mutations in CFAP70 serve as important genetic markers for the diagnosis of certain syndromes of male infertility and ciliary disease[2].

Other names
CFAP70TTC18TPR repeat protein 18FLJ25765Tetratricopeptide repeat protein 18SPGF41cilia- and flagella-associated protein 70Tetratricopeptide repeat domain 18Tetratricopeptide repeat-containing protein (LOC118491)
02

Biological functions

Assembly and function of motile cilia and flagella[1][2]Regulation of axonemal outer dynein arm activity[1]Protein–protein interactions via tetratricopeptide repeats[2]Stabilization of interacting proteins involved in flagellar assembly (e.g., QRICH2)[2]
03

Disease associations

Male infertility (especially multiple morphological abnormalities of sperm flagella, MMAF, and oligoasthenoteratozoospermia/OAT)[2]Ciliopathy phenotypes (e.g., hydrocephalus due to cilia defects in the brain, potentially primary ciliary dyskinesia)[2]Other flagellar/ciliary dysfunctions
04

Safety considerations

Potential risks related to gene editing or replacement therapeutics affecting ciliary function; no current therapies or drug safety issues reported[2].
05

Biomarkers

Genetic variants of CFAP70 used for diagnosis of MMAF-related male infertility and other ciliopathies[2]

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