PRKAR1B

Chr 7

protein kinase cAMP-dependent type I regulatory subunit beta

Also known as: MASNS, PRKAR1

NCBI Gene: 5575 ENSG00000188191 UniProt: P31321

The protein is a regulatory subunit of cyclic AMP-dependent protein kinase A (PKA) that controls cAMP signaling pathways involved in ion transport, metabolism, and transcription. Mutations cause Marbach-Schaaf neurodevelopmental syndrome with autosomal dominant inheritance. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.538), suggesting some tolerance to protein-truncating mutations.

ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a regulatory subunit of cyclic AMP-dependent protein kinase A (PKA), which is involved in the signaling pathway of the second messenger cAMP. Two regulatory and two catalytic subunits form the PKA holoenzyme, disbands after cAMP binding. The holoenzyme is involved in many cellular events, including ion transport, metabolism, and transcription. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2015]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMarbach-Schaaf neurodevelopmental syndrome

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.54

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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