PPP1R1A Chromosome 12

Protein phosphatase 1 regulatory inhibitor subunit 1A
1 variant 1 Health Risk

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What This Gene Does
Predicted to enable protein serine/threonine phosphatase inhibitor activity. Predicted to be involved in intracellular signal transduction. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Protein phosphatase 1 regulatory subunits
Locus Type
gene with protein product
Location
12q13.2
Ensembl
ENSG00000135447
Associated Conditions (2)
Low-frequency hearing loss
Low-frequency sensorineural hearing impairment
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS202211027 Health Risk Conflicting classifications of pathogenicity Low-frequency hearing loss, Low-frequency sensorineural hearing impairment, Low-frequency hearing loss
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