PRKACB Chromosome 1
Protein kinase cAMP-activated catalytic subunit beta
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What This Gene Does
The protein encoded by this gene is a member of the serine/threonine protein kinase family. The encoded protein is a catalytic subunit of cAMP (cyclic AMP)-dependent protein kinase, which mediates signalling though cAMP. cAMP signaling is important to a number of processes, including cell proliferaton and differentiation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2014]
Gene Info
Gene Group
"Protein kinase A subunits|Protein kinase A family"
Locus Type
gene with protein product
Location
1p31.1
Ensembl
ENSG00000142875
Associated Conditions (1)
Cardioacrofacial dysplasia 2
Key Variants
RS1663748771
Pathogenic
Cardioacrofacial dysplasia 2, Cardioacrofacial dysplasia 2
Health Risk
RS1670492319
Pathogenic
Cardioacrofacial dysplasia 2, Cardioacrofacial dysplasia 2
Health Risk
RS748898273
Pathogenic
Cardioacrofacial dysplasia 2, Cardioacrofacial dysplasia 2
Health Risk
RS768056300
Pathogenic
Cardioacrofacial dysplasia 2, Cardioacrofacial dysplasia 2, Cardioacrofacial dysplasia 2
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1663748771 | Health Risk | Pathogenic | Cardioacrofacial dysplasia 2, Cardioacrofacial dysplasia 2 |
| RS1670492319 | Health Risk | Pathogenic | Cardioacrofacial dysplasia 2, Cardioacrofacial dysplasia 2 |
| RS748898273 | Health Risk | Pathogenic | Cardioacrofacial dysplasia 2, Cardioacrofacial dysplasia 2 |
| RS768056300 | Health Risk | Pathogenic | Cardioacrofacial dysplasia 2, Cardioacrofacial dysplasia 2, Cardioacrofacial dysplasia 2 |