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Genetics Home Reference: your guide to understanding genetic conditions
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EF-hand domain containing gene family

Reviewed November 2013

What are the EF-hand domain containing genes?

Genes in the EF-hand domain containing family provide instructions for making proteins that contain one or more regions called EF-hand domains. These domains, which are made up of a similar sequence of protein building blocks (amino acids), allow the protein to interact with charged calcium atoms (calcium ions). Calcium is involved in signaling pathways in cells; through this signaling, it plays many important roles throughout the body, including stimulating muscle contractions, nerve cell firing, cell growth, and cell movement.

Most of the proteins with EF-hand domains relay chemical signals triggered by calcium as part of a process called signal transduction. When calcium attaches (binds) to this type of EF-hand domain-containing protein, the protein changes shape, exposing a region that interacts with other proteins. A series of additional steps relays signals in the cell, which ultimately direct the cell to perform specific functions. EF-hand domain-containing proteins with this function are called calcium sensors.

Some EF-hand domain-containing proteins regulate calcium signaling. By binding to calcium, they help control when and where calcium is available for signaling. Because these proteins help manage the effects of calcium, they are called calcium buffers. Many calcium buffers can also function as calcium sensors to help relay signals in the cell.

Proteins containing EF-hand domains perform many diverse functions, and mutations in the genes that provide instructions for these proteins have a variety of effects. Changes in genes in the EF-hand domain containing family have been associated with several conditions, including heart problems, bone abnormalities, seizure disorders, and other neurological problems.

Which genes are included in the EF-hand domain containing gene family?

The HUGO Gene Nomenclature Committee (HGNC) provides a list of genes in the EF-hand domain containing family (http://www.genenames.org/genefamilies/EFHAND).

Genetics Home Reference summarizes the normal function and health implications of these members of the EF-hand domain containing gene family: DUOX2, EFHC1, FKBP10, GNPTAB, LETM1, PKD2, RYR2, SEPN1, and SLC25A13.

What conditions are related to genes in the EF-hand domain containing gene family?

Genetics Home Reference includes these conditions related to genes in the EF-hand domain containing gene family:

  • arrhythmogenic right ventricular cardiomyopathy
  • catecholaminergic polymorphic ventricular tachycardia
  • citrullinemia
  • congenital fiber-type disproportion
  • congenital hypothyroidism
  • juvenile myoclonic epilepsy
  • Kuskokwim syndrome
  • mucolipidosis II alpha/beta
  • mucolipidosis III alpha/beta
  • multiminicore disease
  • polycystic kidney disease
  • Wolf-Hirschhorn syndrome

Where can I find additional information about the EF-hand domain containing gene family?

You may find the following resources about the EF-hand domain containing gene family helpful.

  • EF-Hand Calcium-Binding Proteins Data Library (http://structbio.vanderbilt.edu/cabp_database/)
  • Biochemistry (fifth edition, 2002): Calcium Activates the Regulatory Protein Calmodulin, Which Stimulates Many Enzymes and Transporters (http://www.ncbi.nlm.nih.gov/books/NBK22602/)
  • Basic Neurochemistry: Molecular, Cellular and Medical Aspects (sixth edition, 1999): Ca2+-Regulated Processes (http://www.ncbi.nlm.nih.gov/books/NBK28115/)

What glossary definitions help with understanding the EF-hand domain containing gene family?

acids ; autosomal ; autosomal dominant ; calcium ; cardiac ; carrier ; cell ; domain ; ions ; kidney ; leucine ; nerve cell ; neurological ; oxidase ; phosphate ; polycystic kidney ; protein ; receptor ; seizure ; signal transduction ; solute ; transduction ; transferase ; transmembrane

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

References

These sources were used to develop the Genetics Home Reference summary for the EF-hand domain containing gene family.

  • Schwaller B. Cytosolic Ca2+ buffers. Cold Spring Harb Perspect Biol. 2010 Nov;2(11):a004051. doi: 10.1101/cshperspect.a004051. Epub 2010 Oct 13. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20943758?dopt=Abstract)
  • Nelson MR, Thulin E, Fagan PA, Forsén S, Chazin WJ. The EF-hand domain: a globally cooperative structural unit. Protein Sci. 2002 Feb;11(2):198-205. (http://www.ncbi.nlm.nih.gov/pubmed/11790829?dopt=Abstract)
  • Chazin WJ. Relating form and function of EF-hand calcium binding proteins. Acc Chem Res. 2011 Mar 15;44(3):171-9. doi: 10.1021/ar100110d. Epub 2011 Feb 11. (http://www.ncbi.nlm.nih.gov/pubmed/21314091?dopt=Abstract)
  • Lewit-Bentley A, Réty S. EF-hand calcium-binding proteins. Curr Opin Struct Biol. 2000 Dec;10(6):637-43. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11114499?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: November 2013
Published: December 16, 2014