8axr

Structural highlights

Disease

CF410_HUMAN Amyotrophic lateral sclerosis;Cone rod dystrophy. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry.

Function

CF410_HUMAN Plays a role in cilia formation and/or maintenance (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization (PubMed:21834987). Involved in DNA damage repair (PubMed:26290490).[UniProtKB:Q8C6G1]^{[1] [2]}

References

1. ↑ Bai SW, Herrera-Abreu MT, Rohn JL, Racine V, Tajadura V, Suryavanshi N, Bechtel S, Wiemann S, Baum B, Ridley AJ. Identification and characterization of a set of conserved and new regulators of cytoskeletal organization, cell morphology and migration. BMC Biol. 2011 Aug 11;9:54. doi: 10.1186/1741-7007-9-54. PMID:21834987 doi:10.1186/1741-7007-9-54
2. ↑ Fang X, Lin H, Wang X, Zuo Q, Qin J, Zhang P. The NEK1 interactor, C21ORF2, is required for efficient DNA damage repair. Acta Biochim Biophys Sin (Shanghai). 2015 Oct;47(10):834-41. PMID:26290490 doi:10.1093/abbs/gmv076