SIGN IN YOUR ACCOUNT TO HAVE ACCESS TO DIFFERENT FEATURES

FORGOT YOUR PASSWORD?

FORGOT YOUR DETAILS?

AAH, WAIT, I REMEMBER NOW!
24/7 HELPLINE (903) 212-7500
  • PATIENT PORTAL LOGIN

PhyNet Health PhyNet Health

  • Home
  • Find a Clinic
    • Hughes Springs, TX
    • Longview, TX
    • Jefferson, TX
    • Kilgore, TX
    • Lindale, TX
    • Linden, TX
    • Gladewater, TX
    • Lone Star, TX
    • Tatum, TX
    • Marshall, TX
  • Health Services
    • Primary Care Services
    • Physical Therapy / Rehab
    • Allergy Testing & Treatment
    • Chronic Care Management
    • Remote Monitoring Program
    • Virtual Visit
  • Resources
    • MedlinePlus Wiki
      • Health Topics
    • Home Health Coordination
    • Transitions of Care
    • Insurance Help
  • About Phynet
    • About Phynet
    • PhyNet News
    • Better Together Stories
    • Careers
  • Billing

Health Topics

Skip navigation

An official website of the United States government

Here’s how you know

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( Lock Locked padlock icon ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

National Institutes of Health National Library of Medicine
MedlinePlus Trusted Health Information for You
  • Health Topics
  • Drugs & Supplements
  • Genetics
  • Medical Tests
  • Medical Encyclopedia
  • About MedlinePlus
  • About MedlinePlus
  • What's New
  • Site Map
  • Customer Support
  • Health Topics
  • Drugs & Supplements
  • Genetics
  • Medical Tests
  • Medical Encyclopedia
You Are Here:
Home →
Genetics →
Genes →
GBE1 gene
URL of this page: https://medlineplus.gov/genetics/gene/gbe1/

GBE1 gene

1,4-alpha-glucan branching enzyme 1

Normal Function

The GBE1 gene provides instructions for making the glycogen branching enzyme. This enzyme is involved in the last step of the production of a complex sugar called glycogen, which is a major source of stored energy in the body. Glycogen is made up of many molecules of a simple sugar called glucose; some glucose molecules are linked together in a straight line, while others branch off the main line and form side chains. The glycogen branching enzyme is involved in the formation of these side chains. The branched structure of glycogen makes it more compact for storage and allows it to break down more easily when it is needed for fuel.

Health Conditions Related to Genetic Changes

Adult polyglucosan body disease

At least three mutations in the GBE1 gene have been found to cause adult polyglucosan body disease, a condition that affects the nervous system. These mutations change single protein building blocks (amino acids) in the glycogen branching enzyme. One mutation appears to be more common in affected people with Ashkenazi Jewish ancestry. This mutation replaces the amino acid tyrosine with the amino acid serine at position 329 in the enzyme (written Tyr329Ser or Y329S). 

Most mutations that cause adult polyglucosan body disease lead to a shortage (deficiency) of the enzyme. As a result, glycogen has fewer side chains. These abnormal glycogen molecules, called polyglucosan bodies, accumulate within cells and cause damage. Nerve cells (neurons) appear to be particularly vulnerable to the accumulation of polyglucosan bodies in this disorder. Damage to neurons causes reduced sensation, weakness, and other nervous system problems in people with adult polyglucosan body disease.

More About This Health Condition

Glycogen storage disease type IV

Approximately 40 mutations in the GBE1 gene have been found to cause glycogen storage disease type IV (GSD IV). This disorder is characterized by liver and muscle problems that usually begin in infancy and are caused by a buildup of abnormal glycogen. Most of the mutations that cause this condition change single amino acids in the glycogen branching enzyme. 

The GBE1 gene mutations that cause GSD IV lead to a severe shortage or complete absence of glycogen branching enzyme. As a result, polyglucosan bodies accumulate in cells, leading to damage and cell death. Polyglucosan bodies build up in cells throughout the body, but liver cells and muscle cells are most severely affected in GSD IV. Glycogen accumulation in the liver interferes with liver functioning, causing an enlarged liver and liver disease. The inability of muscle cells to break down glycogen for energy leads to muscle weakness and wasting.

It is unclear why liver and muscle cells are affected by the accumulation of polyglucosan bodies in GSD IV, while neurons are solely affected in adult polyglucosan body disease (described above).

More About This Health Condition

Other Names for This Gene

  • amylo-(1,4 to 1,6) transglucosidase
  • amylo-(1,4 to 1,6) transglycosylase
  • GBE
  • GLGB_HUMAN
  • glucan (1,4-alpha-), branching enzyme 1
  • glycogen branching enzyme

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

  • Tests of GBE1 From the National Institutes of Health

Scientific Articles on PubMed

  • PubMed From the National Institutes of Health

Catalog of Genes and Diseases from OMIM

  • GLYCOGEN BRANCHING ENZYME; GBE1

Gene and Variant Databases

  • NCBI Gene From the National Institutes of Health
  • ClinVar From the National Institutes of Health

References

  • Bruno C, van Diggelen OP, Cassandrini D, Gimpelev M, Giuffre B, Donati MA, Introvini P, Alegria A, Assereto S, Morandi L, Mora M, Tonoli E, Mascelli S, Traverso M, Pasquini E, Bado M, Vilarinho L, van Noort G, Mosca F, DiMauro S, Zara F, Minetti C. Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). Neurology. 2004 Sep 28;63(6):1053-8. doi: 10.1212/01.wnl.0000138429.11433.0d. Citation on PubMed
  • Klein CJ, Boes CJ, Chapin JE, Lynch CD, Campeau NG, Dyck PJ, Dyck PJ. Adult polyglucosan body disease: case description of an expanding genetic and clinical syndrome. Muscle Nerve. 2004 Feb;29(2):323-8. doi: 10.1002/mus.10520. Citation on PubMed
  • Lossos A, Meiner Z, Barash V, Soffer D, Schlesinger I, Abramsky O, Argov Z, Shpitzen S, Meiner V. Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene. Ann Neurol. 1998 Dec;44(6):867-72. doi: 10.1002/ana.410440604. Citation on PubMed
  • Massa R, Bruno C, Martorana A, de Stefano N, van Diggelen OP, Federico A. Adult polyglucosan body disease: proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene. Muscle Nerve. 2008 Apr;37(4):530-6. doi: 10.1002/mus.20916. Citation on PubMed
  • Mochel F, Schiffmann R, Steenweg ME, Akman HO, Wallace M, Sedel F, Laforet P, Levy R, Powers JM, Demeret S, Maisonobe T, Froissart R, Da Nobrega BB, Fogel BL, Natowicz MR, Lubetzki C, Durr A, Brice A, Rosenmann H, Barash V, Kakhlon O, Gomori JM, van der Knaap MS, Lossos A. Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. Ann Neurol. 2012 Sep;72(3):433-41. doi: 10.1002/ana.23598. Citation on PubMed or Free article on PubMed Central
  • Moses SW, Parvari R. The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies. Curr Mol Med. 2002 Mar;2(2):177-88. doi: 10.2174/1566524024605815. Citation on PubMed
  • Nolte KW, Janecke AR, Vorgerd M, Weis J, Schroder JM. Congenital type IV glycogenosis: the spectrum of pleomorphic polyglucosan bodies in muscle, nerve, and spinal cord with two novel mutations in the GBE1 gene. Acta Neuropathol. 2008 Nov;116(5):491-506. doi: 10.1007/s00401-008-0417-8. Epub 2008 Jul 26. Citation on PubMed
DNA helix

Genomic Location

The GBE1 gene is found on chromosome 3.

Related Health Topics

  • Genes and Gene Therapy
  • Genetic Disorders

MEDICAL ENCYCLOPEDIA

  • Genes
  • Genetics

Understanding Genetics

  • What is DNA?
  • What is a gene?
  • What is a gene variant and how do variants occur?

Disclaimers

MedlinePlus links to health information from the National Institutes of Health and other federal government agencies. MedlinePlus also links to health information from non-government Web sites. See our disclaimer about external links and our quality guidelines.

The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.

  • About MedlinePlus
  • What's New
  • Site Map
  • Customer Support
  • Subscribe to RSSRSS
  • Connect with NLM
  • NLM Web Policies
  • Copyright
  • Accessibility
  • Guidelines for Links
  • Viewers & Players
  • HHS Vulnerability Disclosure
  • MedlinePlus Connect for EHRs
  • For Developers
National Library of Medicine 8600 Rockville Pike, Bethesda, MD 20894 U.S. Department of Health and Human Services National Institutes of Health
Last updated February 1, 2013
Return to top

Patients

  • Find a Clinic
  • Health Services
  • Complex Case Management
  • MA / Medicare Assistance

Quick Links

  • Billing Information
  • Careers
  • About Phynet
  • PhyNet News

Network Links

  • PrimeCareHomeHealth.com
  • PrimeCareNet.com
  • PrimeCareManagers.com
  • Core-Rehab.com

Home Office

4002 Technology Center Longview TX 75605
Phone: (903) 247-0484
Fax: (903) 247-0485
[email protected]
  • PrimeCareHomeHealth.com
  • PrimeCareNet.com
  • PrimeCareManagers.com
  • Core-Rehab.com
  • GET SOCIAL

© 2021 PhyNet Health • All rights reserved
YOUR LIFE. YOUR CHOICE.

TOP