9hkr

Structural highlights

Disease

SPAG1_HUMAN Primary ciliary dyskinesia. The disease is caused by mutations affecting the gene represented in this entry.

Function

SPAG1_HUMAN May play a role in the cytoplasmic assembly of the ciliary dynein arms (By similarity). May play a role in fertilization. Binds GTP and has GTPase activity.^{[1] [2]}

References

1. ↑ Lin W, Zhou X, Zhang M, Li Y, Miao S, Wang L, Zong S, Koide SS. Expression and function of the HSD-3.8 gene encoding a testis-specific protein. Mol Hum Reprod. 2001 Sep;7(9):811-8. doi: 10.1093/molehr/7.9.811. PMID:11517287 doi:http://dx.doi.org/10.1093/molehr/7.9.811
2. ↑ Zhang ML, Wang LF, Miao SY, Koide SS. Isolation and sequencing of the cDNA encoding the 75-kD human sperm protein related to infertility. Chin Med J (Engl). 1992 Dec;105(12):998-1003. PMID:1299558