PPM1F Chromosome 22
Protein phosphatase, Mg2+/Mn2+ dependent 1F
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What This Gene Does
The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase can interact with Rho guanine nucleotide exchange factors (PIX), and thus block the effects of p21-activated kinase 1 (PAK), a protein kinase mediating biological effects downstream of Rho GTPases. Calcium/calmodulin-dependent protein kinase II gamma (CAMK2G/CAMK-II) is found to be one of the substrates of this phosphatase. The overexpression of this phosphatase or CAMK2G has been shown to mediate caspase-dependent apoptosis. An alternatively spliced transcript variant has been identified, but its full-length nature has not been determined. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Protein phosphatases, Mg2+/Mn2+ dependent
Locus Type
gene with protein product
Location
22q11.22
Ensembl
ENSG00000100034
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS148178922 | Health Risk | Conflicting classifications of pathogenicity | — |