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Genetics Home Reference: your guide to understanding genetic conditions
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ETFB

Reviewed July 2008

What is the official name of the ETFB gene?

The official name of this gene is “electron-transfer-flavoprotein, beta polypeptide.”

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

What is the normal function of the ETFB gene?

The ETFB gene provides instructions for making one part (the beta subunit) of an enzyme called electron transfer flavoprotein. This enzyme is normally active in the mitochondria, the energy-producing centers in cells. Electron transfer flavoprotein is involved in the process by which fats and proteins are broken down to produce energy.

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

glutaric acidemia type II - caused by mutations in the ETFB gene

Some mutations in the ETFB gene prevent the production of the electron transfer flavoprotein enzyme. Other mutations result in the production of a defective enzyme that cannot fulfill its role in the series of reactions (metabolic pathways) that break down fats and proteins. This enzyme deficiency allows these nutrients, as well as compounds created as the nutrients are partially broken down, to build up to abnormal levels, especially when the body is under stress. Toxic products of incomplete metabolism damage cells in many body systems, resulting in the signs and symptoms of glutaric acidemia type II.

Where is the ETFB gene located?

Cytogenetic Location: 19q13.3

Molecular Location on chromosome 19: base pairs 51,345,154 to 51,366,417

The ETFB gene is located on the long (q) arm of chromosome 19 at position 13.3.

The ETFB gene is located on the long (q) arm of chromosome 19 at position 13.3.

More precisely, the ETFB gene is located from base pair 51,345,154 to base pair 51,366,417 on chromosome 19.

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 ETFB?

You and your healthcare professional may find the following resources about ETFB helpful.

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

What other names do people use for the ETFB gene or gene products?

  • electron transfer flavoprotein, beta polypeptide
  • electron transfer flavoprotein beta subunit
  • ETFB_HUMAN
  • FP585

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding ETFB?

deficiency ; electron ; enzyme ; gene ; metabolism ; mitochondria ; stress ; subunit ; toxic

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

References

  • Curcoy A, Olsen RK, Ribes A, Trenchs V, Vilaseca MA, Campistol J, Osorio JH, Andresen BS, Gregersen N. Late-onset form of beta-electron transfer flavoprotein deficiency. Mol Genet Metab. 2003 Apr;78(4):247-9. (http://www.ncbi.nlm.nih.gov/pubmed/12706375?dopt=Abstract)
  • Curcoy A, Olsen RK, Ribes A, Trenchs V, Vilaseca MA, Campistol J, Osorio JH, Andresen BS, Gregersen N. Late-onset form of beta-electron transfer flavoprotein deficiency. Mol Genet Metab. 2003 Apr;78(4):247-9. (http://www.ncbi.nlm.nih.gov/pubmed/12706375?dopt=Abstract)
  • OMIM: ELECTRON TRANSFER FLAVOPROTEIN, BETA POLYPEPTIDE (http://omim.org/entry/130410)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2109)
  • Olsen RK, Andresen BS, Christensen E, Bross P, Skovby F, Gregersen N. Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. Hum Mutat. 2003 Jul;22(1):12-23. (http://www.ncbi.nlm.nih.gov/pubmed/12815589?dopt=Abstract)
  • Olsen RK, Andresen BS, Christensen E, Mandel H, Skovby F, Nielsen JP, Knudsen I, Vianey-Saban C, Simonsen H, Gregersen N. DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency. Prenat Diagn. 2005 Jan;25(1):60-4. (http://www.ncbi.nlm.nih.gov/pubmed/15662686?dopt=Abstract)
  • Schiff M, Froissart R, Olsen RK, Acquaviva C, Vianey-Saban C. Electron transfer flavoprotein deficiency: functional and molecular aspects. Mol Genet Metab. 2006 Jun;88(2):153-8. Epub 2006 Feb 28. (http://www.ncbi.nlm.nih.gov/pubmed/16510302?dopt=Abstract)
  • White RA, Dowler LL, Angeloni SV, Koeller DM. Assignment of Etfdh, Etfb, and Etfa to chromosomes 3, 7, and 13: the mouse homologs of genes responsible for glutaric acidemia type II in human. Genomics. 1996 Apr 1;33(1):131-4. (http://www.ncbi.nlm.nih.gov/pubmed/8617498?dopt=Abstract)
  • Whitfield J, Hurst D, Bennett MJ, Sherwood WG, Hogg R, Gonsoulin W. Fetal polycystic kidney disease associated with glutaric aciduria type II: an inborn error of energy metabolism. Am J Perinatol. 1996 Apr;13(3):131-4. (http://www.ncbi.nlm.nih.gov/pubmed/8688100?dopt=Abstract)

 

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.

 
Reviewed: July 2008
Published: December 22, 2014