EF-hand domain containing 1
Last updated 18 Aug 2020
Meets Patient’s editorial guidelines
- DownloadDownload
- Share
- Language
- Discussion
- Audio Version
- Add to preferred sources on Google
The EFHC1 gene provides instructions for making a protein called EF-hand domain containing protein 1 (EFHC1). The EFHC1 protein interacts with another protein that acts as a calcium channel, allowing positively charged calcium atoms (calcium ions) to cross the cell membrane. The movement of these ions is critical for normal signaling between nerve cells (neurons) in the brain and other parts of the nervous system. The role of the EFHC1 protein is not well understood, although it is thought to help regulate the balance of calcium ions inside the cell (calcium homeostasis). Studies also show that the EFHC1 protein may stimulate the self-destruction of cells (apoptosis).
Normal function
The EFHC1 gene provides instructions for making a protein called EF-hand domain containing protein 1 (EFHC1). The EFHC1 protein interacts with another protein that acts as a calcium channel, allowing positively charged calcium atoms (calcium ions) to cross the cell membrane. The movement of these ions is critical for normal signaling between nerve cells (neurons) in the brain and other parts of the nervous system. The role of the EFHC1 protein is not well understood, although it is thought to help regulate the balance of calcium ions inside the cell (calcium homeostasis). Studies also show that the EFHC1 protein may stimulate the self-destruction of cells (apoptosis).
Conditions referring to this gene or chromosome
Other names
EF-hand domain (C-terminal) containing 1
EF-hand domain-containing protein 1
EFHC1_HUMAN
myoclonin-1
Related patient information and medicines
Patient information leaflet
Fingertip units for topical steroids
Topical steroids are used for various skin conditions. The amount of topical steroid that you should apply is commonly measured by fingertip units. Topical steroids are creams, ointments and lotions which contain steroid drugs. Unlike many other creams and ointments, it is important to get the dose right when using topical steroids, to avoid.
Patient information leaflet
Acromegaly
Acromegaly is a rare, progressive condition in which you make too much growth hormone. This causes a range of symptoms that develop gradually, often over several years. The most noticeable symptoms are that your hands and feet become larger and features of your face may become more prominent. The cause is usually a small non-cancerous growth.
Patient information leaflet
Asthma inhalers
An inhaler is a device containing a medicine that is taken by breathing it in (inhaling). Inhalers are the main treatment for asthma and help to control asthma symptoms. Types of asthma inhalers There are different asthma inhaler devices that deliver the same medicine. In the treatment of asthma, the medicine inside inhalers can be divided into:.
Patient information leaflet
Topical steroids for eczema
Topical steroids are medicated steroid creams that are put on the skin. They are used in addition to moisturisers (also called emollients) for treating eczema. Topical steroids reduce skin inflammation. A short course will usually clear a flare-up of eczema. Side-effects are unlikely to occur with short courses. What are topical steroids. Topical.
Patient information leaflet
Hand-arm vibration syndrome
Hand-arm vibration syndrome (sometimes abbreviated to HAVS) causes changes in the sensation of the fingers which can lead to permanent numbness of fingers, muscle weakness and, in some cases, bouts of white finger. It is caused by working with vibrating tools. It would be unusual to develop hand-arm vibration syndrome without using vibrating tools.
Patient information leaflet
Cri du chat syndrome
Cri du chat syndrome is a chromosome problem caused by a missing piece of chromosome 5. The syndrome is called cri du chat (French for cry of the cat) because affected babies often have a high-pitched cry. Not all babies with the missing piece of chromosome 5 will develop cri du chat syndrome. Cri du chat syndrome may cause a variety of.
Further reading and references
- EF-hand domain containing 1; MedlinePlus, National Library of Medicine.
- Katano M, Numata T, Aguan K, Hara Y, Kiyonaka S, Yamamoto S, Miki T, Sawamura S, Suzuki T, Yamakawa K, Mori Y. The juvenile myoclonic epilepsy-related protein EFHC1 interacts with the redox-sensitive TRPM2 channel linked to cell death. Cell Calcium. 2012 Feb;51(2):179-85. doi: 10.1016/j.ceca.2011.12.011. Epub 2012 Jan 4.
- Medina MT, Suzuki T, Alonso ME, Duron RM, Martinez-Juarez IE, Bailey JN, Bai D, Inoue Y, Yoshimura I, Kaneko S, Montoya MC, Ochoa A, Prado AJ, Tanaka M, Machado-Salas J, Fujimoto S, Ito M, Hamano S, Sugita K, Ueda Y, Osawa M, Oguni H, Rubio-Donnadieu F, Yamakawa K, Delgado-Escueta AV. Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy. Neurology. 2008 May 27;70(22 Pt 2):2137-44. doi: 10.1212/01.wnl.0000313149.73035.99.
- Suzuki T, Delgado-Escueta AV, Aguan K, Alonso ME, Shi J, Hara Y, Nishida M, Numata T, Medina MT, Takeuchi T, Morita R, Bai D, Ganesh S, Sugimoto Y, Inazawa J, Bailey JN, Ochoa A, Jara-Prado A, Rasmussen A, Ramos-Peek J, Cordova S, Rubio-Donnadieu F, Inoue Y, Osawa M, Kaneko S, Oguni H, Mori Y, Yamakawa K. Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat Genet. 2004 Aug;36(8):842-9. doi: 10.1038/ng1393. Epub 2004 Jul 18.
Join the conversation
Share your thoughts or experiences with others in our patient communities.
Ask, share, connect.
Browse discussions, ask questions, and share experiences across hundreds of health topics.
Sign up to the Patient newsletter
Your weekly dose of clear, trustworthy health advice - written to help you feel informed, confident and in control.
By subscribing you accept our Privacy Policy. You can unsubscribe at any time. We never sell your data.