Aliases for SEPTIN12 Gene
External Ids for SEPTIN12 Gene
Previous HGNC Symbols for SEPTIN12 Gene
Previous GeneCards Identifiers for SEPTIN12 Gene
This gene encodes a guanine-nucleotide binding protein and member of the septin family of cytoskeletal GTPases. Septins play important roles in cytokinesis, exocytosis, embryonic development, and membrane dynamics. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
GeneCards Summary for SEPTIN12 Gene
SEPTIN12 (Septin 12) is a Protein Coding gene. Diseases associated with SEPTIN12 include Spermatogenic Failure 10 and Non-Syndromic Male Infertility Due To Sperm Motility Disorder. Among its related pathways are Bacterial invasion of epithelial cells. An important paralog of this gene is SEPTIN9.
UniProtKB/Swiss-Prot Summary for SEPTIN12 Gene
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).