GeneID: 492
Names
| Common Name: | PRKACB | Type: | Gene |
|---|---|---|---|
| Chromosome: | 1 (NC_000001.11) | Locus: | NG_029728.1 (PRKACB) |
| HUGO Symbol: | PRKACB | Full Name: | protein kinase cAMP-activated catalytic subunit beta |
| Exons: | 10 | Introns: | 9 |
Description:
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-dependent protein kinase (PKA), a tetrameric holoenzyme composed of 2 catalytic and 2 regulatory subunits. It plays a role in cAMP-dependent signaling, which is important to a number of processes, including cell proliferation and differentiation. PRKACB is predominantly expressed in the brain and has been implicated in neurodegenerative diseases. Sequence variation in this gene associated with stroke outcomes in patients with sickle cell disease.
Synonyms: CAFD2 , PKACB , PKA C-beta
Comments:
N/A
Number of entries/variants: 1
IthaScore
Sequence Viewer
Publications / Origin
- Brewin JN, Rooks H, Gardner K, Senior H, Morje M, Patel H, Calvet D, Bartolucci P, Thein SL, Menzel S, Rees DC, Genome wide association study of silent cerebral infarction in sickle cell disease (HbSS and HbSC)., Haematologica, 106(6), 1770-1773, 2021 PubMed
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2022-03-29 13:31:19 | The IthaGenes Curation Team | Created |