Biology:CFAP410
From HandWiki
Cilia and Flagella Associated Protein 410 (CFAP410, also known as C21orf2 or LRRC76) is a protein that in humans is encoded by the CFAP410 gene. It is essential for ciliogenesis.[1] Mutations in CFAP410 have been linked to Jeune syndrome, Joubert syndrome, various ciliopathies, and amyotrophic lateral sclerosis.[2][3]
References
- ↑ "An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes". Nat Cell Biol 17 (8): 1074–1087. 2015-07-13. doi:10.1038/ncb3201. PMID 26167768.
- ↑ "Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration". npj Genomic Medicine 9 (1). 2024-11-08. doi:10.1038/s41525-024-00439-3. PMID 39516462.
- ↑ "C21ORF2 mutations point towards primary cilia dysfunction in amyotrophic lateral sclerosis". Brain 148 (3): 803–816. 2025-03-06. doi:10.1093/brain/awae331. PMID 39703094.
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