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.[5] Mutations in CFAP410 have been linked to Jeune syndrome, Joubert syndrome, various ciliopathies, and amyotrophic lateral sclerosis.[6][7]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000160226 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020284 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, et al. (2015-07-13). "An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes". Nat Cell Biol. 17 (8): 1074–1087. doi:10.1038/ncb3201. PMC 4536769. PMID 26167768.
- ^ Sangermano R, Gupta P, Price C, Han J, Navarro J, Condroyer C, et al. (2024-11-08). "Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration". npj Genomic Medicine. 9 (1): 58. doi:10.1038/s41525-024-00439-3. PMC 11549414. PMID 39516462.
- ^ De Decker M, Zelina P, Moens TG, Beckers J, Contardo M, Dittlau KS, et al. (2025-03-06). "C21ORF2 mutations point towards primary cilia dysfunction in amyotrophic lateral sclerosis". Brain. 148 (3): 803–816. doi:10.1093/brain/awae331. PMC 11884758. PMID 39703094.