6mql
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Crystal Structure of GTPase Domain of Human Septin 12 Mutant T89M
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Structural highlights
DiseaseSEP12_HUMAN Non-syndromic male infertility due to sperm motility disorder. The disease is caused by mutations affecting the gene represented in this entry. FunctionSEP12_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
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This page was last modified 06:36, 11 October 2023.