PRKAA1 Chromosome 5
Protein kinase AMP-activated catalytic subunit alpha 1
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What This Gene Does
The protein encoded by this gene belongs to the ser/thr protein kinase family. It is the catalytic subunit of the 5'-prime-AMP-activated protein kinase (AMPK). AMPK is a cellular energy sensor conserved in all eukaryotic cells. The kinase activity of AMPK is activated by the stimuli that increase the cellular AMP/ATP ratio. AMPK regulates the activities of a number of key metabolic enzymes through phosphorylation. It protects cells from stresses that cause ATP depletion by switching off ATP-consuming biosynthetic pathways. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Protein kinase AMP-activated catalytic subunit alpha family
Locus Type
gene with protein product
Location
5p13.1
Ensembl
ENSG00000132356
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201118044 | Health Risk | Conflicting classifications of pathogenicity | — |