PPP1R3F Chromosome X

Protein phosphatase 1 regulatory subunit 3F
2 variants 2 Health Risk

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What This Gene Does
This gene encodes a protein that has been identified as one of several type-1 protein phosphatase (PP1) regulatory subunits. One or two of these subunits, together with the well-conserved catalytic subunit, can form the PP1 holoenzyme, where the regulatory subunit functions to regulate substrate specificity and/or targeting to a particular cellular compartment. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
Gene Info
Gene Group
Protein phosphatase 1 regulatory subunits
Locus Type
gene with protein product
Location
Xp11.23
Ensembl
ENSG00000049769
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS1274274514 Health Risk Conflicting classifications of pathogenicity
RS782207752 Health Risk Conflicting classifications of pathogenicity
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