Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, causes a late-onset retinal dystrophy - PubMed
6 hours ago
- #microtubule inner protein
- #SAXO6
- #retinal dystrophy
- Loss-of-function variants in SAXO6 cause late-onset retinal dystrophy.
- SAXO6 is identified as a microtubule inner protein (MIP) in photoreceptor cilia.
- Six bi-allelic predicted null variants in SAXO6 were found in six subjects from five families.
- SAXO6 co-localizes with ciliary microtubules in photoreceptors and lung epithelial cells.
- Interaction between SAXO6 and α-tubulin supports its role as a microtubule inner protein.
- SAXO proteins are linked to Mendelian conditions, emphasizing MIPs' role in retinal function.