Structural highlights
Disease
SEP12_HUMAN Non-syndromic male infertility due to sperm motility disorder. The disease is caused by mutations affecting the gene represented in this entry.
Function
SEP12_HUMAN Filament-forming cytoskeletal GTPase (By similarity). Involved in spermatogenesis. Involved in the morphogenesis of sperm heads and the elongation of sperm tails probably implicating the association with alpha- and beta-tubulins (PubMed:24213608). Forms a filamentous structure with SEPTIN7, SEPTIN6, SEPTIN2 and probably SEPTIN4 at the sperm annulus which is required for the structural integrity and motility of the sperm tail during postmeiotic differentiation (PubMed:25588830). May play a role in cytokinesis (Potential).[1] [2]
References
- ↑ Kuo PL, Chiang HS, Wang YY, Kuo YC, Chen MF, Yu IS, Teng YN, Lin SW, Lin YH. SEPT12-microtubule complexes are required for sperm head and tail formation. Int J Mol Sci. 2013 Nov 7;14(11):22102-16. doi: 10.3390/ijms141122102. PMID:24213608 doi:http://dx.doi.org/10.3390/ijms141122102
- ↑ Kuo YC, Shen YR, Chen HI, Lin YH, Wang YY, Chen YR, Wang CY, Kuo PL. SEPT12 orchestrates the formation of mammalian sperm annulus by organizing core octameric complexes with other SEPT proteins. J Cell Sci. 2015 Mar 1;128(5):923-34. doi: 10.1242/jcs.158998. Epub 2015 Jan 14. PMID:25588830 doi:http://dx.doi.org/10.1242/jcs.158998
