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FLASH GENE
Symbol PPP1CC contributors: np/mct - updated : 11-02-2016
HGNC name protein phosphatase 1, catalytic subunit, gamma isozyme
HGNC id 9283
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --over  
promotes vascular smooth muscle cell survival by interfering with MAPK8 and TP53 phosphorylation cascades involved in apoptosis
constitutional   deletion    
in male infertility
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
neuromuscularspinal muscular atrophy 
GEMIN8 interaction with PPP1CC is a target for therapeutic intervention in SMA
ANIMAL & CELL MODELS
  • testicular sperm tails from Ppp1cc-null mice showed malformed mitochondrial sheaths and extra outer dense fibers in both the middle and principal pieces
  • male Ppp1cc mutant mice are sterile due to disruptions in spermatogenesis that begin during prepubertal testicular development, and continue into adulthood, often resulting in loss of germ cells to the point of Sertoli cell-only syndrome