PRKAB2
Description
The PRKAB2 (protein kinase AMP-activated non-catalytic subunit beta 2) is a protein-coding gene located on chromosome 1.
PRKAB2 encodes the beta-2 subunit of AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit may be a positive regulator of AMPK activity. It is highly expressed in skeletal muscle and thus may have tissue-specific roles. The gene is involved in 1q21.1 deletion syndrome and 1q21.1 duplication syndrome. PRKAB2 has been shown to interact with PRKAG2 and PRKAG1. Research on the genes CHD1L and PRKAB2 within lymphoblast cells lead to the conclusion that anomalies appear with the 1q21.1 deletion syndrome: CHD1L is an enzyme which is involved in untangling the chromatids and the DNA repair system. With 1q21.1 deletion syndrome a disturbance occurs, which leads to increased DNA breaks.
PRKAB2 encodes the beta-2 subunit of AMP-activated protein kinase (AMPK), a crucial energy sensor kinase that regulates cellular energy metabolism. AMPK activation, triggered by reduced intracellular ATP levels, initiates energy-producing pathways while inhibiting energy-consuming processes. These processes include the suppression of protein, carbohydrate, and lipid biosynthesis, as well as cell growth and proliferation. AMPK achieves this regulation through direct phosphorylation of metabolic enzymes and long-term effects via phosphorylation of transcription regulators. Additionally, PRKAB2 plays a role in cellular polarity by remodeling the actin cytoskeleton, likely through indirect activation of myosin. The beta non-catalytic subunit acts as a scaffold for the assembly of the AMPK complex, facilitated by its C-terminus which connects the alpha (PRKAA1 or PRKAA2) and gamma subunits (PRKAG1, PRKAG2, or PRKAG3).
PRKAB2 is also known as -.
Associated Diseases
- hyperinsulinism due to INSR deficiency
- hyperinsulinism due to glucokinase deficiency
- thrombocytopenia 4
- type 2 diabetes mellitus
- macrothrombocytopenia, isolated, 2, autosomal dominant
- LIPE-related familial partial lipodystrophy
- eosinophil peroxidase deficiency
- glycogen storage disease IXd
- linear and whorled nevoid hypermelanosis
- obesity due to melanocortin 4 receptor deficiency
- PLIN1-related familial partial lipodystrophy
- short stature due to primary acid-labile subunit deficiency
