|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
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.
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.
Genetics Home Reference includes these conditions related to genes in the EF-hand domain containing gene family:
You may find the following resources about the EF-hand domain containing gene family helpful.
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).
These sources were used to develop the Genetics Home Reference summary for the EF-hand domain containing gene family.
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.