CFAP20
Description
The CFAP20 (cilia and flagella associated protein 20) is a protein-coding gene located on chromosome 16.
CFAP20, also known as Basal body up-regulated protein 22 and Transcription factor IIB, is a cilia- and flagellum-specific protein involved in the organization and motility of the axoneme, the core structure of cilia and flagella. It functions as a microtubule inner protein (MIP) within the dynein-decorated doublet microtubules (DMTs) of the cilia axoneme, contributing to motile cilia beating. CFAP20 also plays a role in regulating the size and morphology of cilia and is necessary for the polyglutamylation of axonemal microtubules.
CFAP20 is also known as BUG22, C16orf80, EVORF, GTL3, fSAP23.
Associated Diseases
- retinitis pigmentosa
- respiratory distress syndrome in premature infants
- Joubert syndrome
- retinal degeneration
- Alzheimer disease
- inherited retinal dystrophy
