PRKAR1B Chromosome 7
Protein kinase cAMP-dependent type I regulatory subunit beta
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What This Gene Does
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]
Gene Info
Gene Group
Protein kinase A subunits
Locus Type
gene with protein product
Location
7p22.3
Ensembl
ENSG00000188191
Associated Conditions (2)
Marbach-Schaaf neurodevelopmental syndrome
PRKAR1B-related neurodevelopmental disorder
Key Variants
RS76344857
Conflicting classifications of pathogenicity
Marbach-Schaaf neurodevelopmental syndrome, Marbach-Schaaf neurodevelopmental syndrome
Health Risk
RS2483243726
Likely pathogenic
Marbach-Schaaf neurodevelopmental syndrome, Marbach-Schaaf neurodevelopmental syndrome
Health Risk
RS866622752
Likely pathogenic
Marbach-Schaaf neurodevelopmental syndrome, Marbach-Schaaf neurodevelopmental syndrome
Health Risk
RS1475000361
Pathogenic/Likely pathogenic
PRKAR1B-related neurodevelopmental disorder, Marbach-Schaaf neurodevelopmental syndrome, PRKAR1B-related neurodevelopmental disorder
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS76344857 | Health Risk | Conflicting classifications of pathogenicity | Marbach-Schaaf neurodevelopmental syndrome, Marbach-Schaaf neurodevelopmental syndrome |
| RS2483243726 | Health Risk | Likely pathogenic | Marbach-Schaaf neurodevelopmental syndrome, Marbach-Schaaf neurodevelopmental syndrome |
| RS866622752 | Health Risk | Likely pathogenic | Marbach-Schaaf neurodevelopmental syndrome, Marbach-Schaaf neurodevelopmental syndrome |
| RS1475000361 | Health Risk | Pathogenic/Likely pathogenic | PRKAR1B-related neurodevelopmental disorder, Marbach-Schaaf neurodevelopmental syndrome, PRKAR1B-related neurodevelopmental disorder |