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FLASH GENE
Symbol SEPTIN12 contributors: mct - updated : 09-10-2015
HGNC name septin 12
HGNC id 26348
ASSOCIATED DISORDERS
corresponding disease(s) SPGF10
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --low  
in the testicular tissues of men with either hypospermatogenesis or maturation arrest
constitutional germinal mutation     loss of function
loss-of-function mutations in SEPT12 disrupted sperm structural integrity by perturbing septin filament formation
constitutional germinal mutation      
in oligozoospermia or teratozoospermia or both
Susceptibility to to teratozoospermia
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS