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Cilia and flagella associated protein 46 (CFAP46)
- Target
- CFAP46
- Molecular classification
- Other (cilia and flagella structural protein), Tetratricopeptide repeat domain-containing protein
01
Overview
Cilia and flagella associated protein 46 (CFAP46) is a protein encoded by the CFAP46 gene in humans. It is characterized by tetratricopeptide repeat (TPR) domains and functions as part of the central apparatus of the cilium axoneme, where it plays a key role in the movement of cilia and flagella, as well as the structural maintenance of these organelles. Disruption of this protein affects processes dependent on ciliary motion and has been associated with inherited eye disorders, such as retinitis pigmentosa and optic atrophy. There are currently no known drug interactions, mechanisms of action, or established biomarker or safety concerns directly tied to CFAP46.
- Other names
- Tetratricopeptide repeat protein 40Tetratricopeptide repeat domain 40Chromosome 10 open reading frame 123 (C10orf123)Chromosome 10 open reading frame 124 (C10orf124)Chromosome 10 open reading frame 92 (C10orf92)Chromosome 10 open reading frame 93 (C10orf93)TTC40DKFZp434A1721FLJ25954TPR repeat-containing protein C10orf93bA288G11.4bA288G11.5bB137A17.2bB137A17.3
02
Biological functions
Axoneme assemblyCilium movementMaintenance of ciliary structure
03
Disease associations
Retinitis pigmentosaOptic atrophyOther (emerging links with developmental processes and some ciliopathies, e.g., through ciliary dysfunction)
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