PTPA Chromosome 9
Protein phosphatase 2 phosphatase activator
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What This Gene Does
Protein phosphatase 2A is one of the four major Ser/Thr phosphatases and is implicated in the negative control of cell growth and division. Protein phosphatase 2A holoenzymes are heterotrimeric proteins composed of a structural subunit A, a catalytic subunit C, and a regulatory subunit B. The regulatory subunit is encoded by a diverse set of genes that have been grouped into the B/PR55, B'/PR61, and B''/PR72 families. These different regulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this gene belongs to the B' family. This gene encodes a specific phosphotyrosyl phosphatase activator of the dimeric form of protein phosphatase 2A. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Cyclophilin peptidylprolyl isomerases|Protein phosphatase 2 modulatory subunits"
Locus Type
gene with protein product
Location
9q34.11
Ensembl
ENSG00000119383
Associated Conditions (3)
Parkinson disease 25
autosomal recessive early-onset
with impaired intellectual development
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1564202579 | Health Risk | Pathogenic | Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development |
| RS2490999610 | Health Risk | Pathogenic | Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development |