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Genetics Home Reference: your guide to understanding genetic conditions
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PRKAB2

The information on this page was automatically extracted from online scientific databases.

What is the official name of the PRKAB2 gene?

The official name of this gene is “protein kinase, AMP-activated, beta 2 non-catalytic subunit.”

PRKAB2 is the gene's official symbol. The PRKAB2 gene is also known by other names, listed below.

What is the normal function of the PRKAB2 gene?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/5565):

The protein encoded by this gene is a regulatory subunit of the 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. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013]

From UniProt (http://www.uniprot.org/uniprot/O43741):

Non-catalytic subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as a regulator of cellular polarity by remodeling the actin cytoskeleton; probably by indirectly activating myosin. Beta non-catalytic subunit acts as a scaffold on which the AMPK complex assembles, via its C-terminus that bridges alpha (PRKAA1 or PRKAA2) and gamma subunits (PRKAG1, PRKAG2 or PRKAG3).

How are changes in the PRKAB2 gene related to health conditions?

Genetics Home Reference provides information about 1q21.1 microdeletion, which is associated with changes in the PRKAB2 gene.
UniProt and NCBI Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
 Article
Number
Main Topic

Where is the PRKAB2 gene located?

Cytogenetic Location: 1q21.1

Molecular Location on chromosome 1: base pairs 147,155,105 to 147,172,588

The PRKAB2 gene is located on the long (q) arm of chromosome 1 at position 21.1.

The PRKAB2 gene is located on the long (q) arm of chromosome 1 at position 21.1.

More precisely, the PRKAB2 gene is located from base pair 147,155,105 to base pair 147,172,588 on chromosome 1.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about PRKAB2?

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What glossary definitions help with understanding PRKAB2?

actin ; ATP ; carbohydrate ; carboxylase ; catalytic ; cell ; cholesterol ; CoA ; cytoskeleton ; enzyme ; expressed ; gene ; intracellular ; kinase ; lipid ; lipid biosynthesis ; metabolism ; myosin ; phosphorylation ; proliferation ; protein ; skeletal muscle ; subunit ; tissue ; transcript ; transcription

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Published: October 27, 2014