DISEASES

Disease-gene associations mined from literature

Literature associating SEPT12 and amyotrophic neuralgia

SEPT12 [ENSP00000268231]

Septin 12; 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. Forms a filamentous structure with SEPT7, SEPT6, SEPT2 and probably SEPT4 at the sperm annulus which is required for the structural integrity and motility of the sperm tail during postmeiotic differentiation. May play a role in cytokinesis (Potential); Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin- like GTPase superfamily. Septin GTPase family.

Synonyms:  SEPT12,  SEPT12p,  hSEPT12,  K7EP57,  K7EP92 ...

Linkouts:  STRING  Pharos  UniProt  OMIM