Symbol
| PPP1CC
| contributors: np/mct - updated : 11-02-2016
|
HGNC name
| protein phosphatase 1, catalytic subunit, gamma isozyme
|
HGNC id
| 9283
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein 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 | |
Variant & Polymorphism
|
| |
Candidate gene
Marker
Therapy target
|
System | Type | Disorder | Pubmed |
neuromuscular | spinal muscular atrophy | | |
GEMIN8 interaction with PPP1CC is a target for therapeutic intervention in SMA |
| | | |
| 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 |