PPP2R1B Chromosome 11

Protein phosphatase 2 scaffold subunit Abeta
1 variant 1 Health Risk

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What This Gene Does
This gene encodes a constant regulatory subunit of protein phosphatase 2. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The constant regulatory subunit A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. This gene encodes a beta isoform of the constant regulatory subunit A. Mutations in this gene have been associated with some lung and colon cancers. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]
Gene Info
Gene Group
"Protein phosphatase 2 scaffold subunits|STRIPAK complex|Armadillo like helical domain containing"
Locus Type
gene with protein product
Location
11q23.1
Ensembl
ENSG00000137713
Associated Conditions (1)
Lung carcinoma
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS1805076 Health Risk Pathogenic Lung carcinoma, Lung carcinoma
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