reticulophagy regulator 1
Dernière mise à jour 18 Aug 2020
Respecte les directives éditoriales
- TéléchargerTélécharger
- Partager
- Language
- Discussion
- Version audio
- Ajouter aux sources préférées sur Google
La RETREG1 gene provides instructions for making a protein that is involved in a cellular process called autophagy. Cells use this process to recycle worn-out or unnecessary cell parts and break down certain proteins when they are no longer needed. In particular, the RETREG1 protein helps direct autophagy of a cell structure called the endoplasmic reticulum, which is important in protein processing and transport. Autophagy may be a way for the cell to remove parts of the endoplasmic reticulum when they are no longer needed or to break down excess or abnormal proteins that are being processed within the structure.
Normal function
La RETREG1 gene provides instructions for making a protein that is involved in a cellular process called autophagy. Cells use this process to recycle worn-out or unnecessary cell parts and break down certain proteins when they are no longer needed. In particular, the RETREG1 protein helps direct autophagy of a cell structure called the endoplasmic reticulum, which is important in protein processing and transport. Autophagy may be a way for the cell to remove parts of the endoplasmic reticulum when they are no longer needed or to break down excess or abnormal proteins that are being processed within the structure.
The RETREG1 protein also appears to be important in the organisation of another cell structure called the Golgi apparatus, which is important for distribution of proteins within the cell.
The RETREG1 protein is found in sensory and autonomic nerve cells (neurons). Sensory neurons transmit pain, touch, and temperature sensations. Autonomic neurons help control involuntary functions of the body such as heart rate and blood pressure.
Conditions referring to this gene or chromosome
Other names
F134B_HUMAN
FAM134B
FAM134B protein
FAM134B protein isoform 1
FAM134B protein isoform 2
family with sequence similarity 134 member B
family with sequence similarity 134, member B
FLJ20152
FLJ22155
FLJ22179
JK1
Related patient information and medicines
Patient information leaflet
Myopie
Others have a significant imp... Refractive surgery must be carried out in premises registered with the Care Quality Commission (CQC) in England, or the equivalent regulator in Scotland, Wales and Northern Ireland. Several types of laser surgery have been developed. Lens surgery Phakic intraocular lens implantation (PIOL) Phakic intraocular lenses.
Patient information leaflet
Artérite à cellules géantes
One of the arteries that is commonly affected is the temporal artery. (You have a temporal artery on each side of your head. They lie under the skin to the sides of the forehead - the temple area - and supply blood to this area). This is why the condition is also called temporal arteritis. Giant cell arteritis (temporal arteritis) causes No one.
Patient information leaflet
Erreur médicale
Most people receive good care from healthcare professionals. There is a separate Health Service Ombudsman for England, Scotland, Pays de Galles et Northern Ireland. Governing bodies for health professionals Healthcare professionals sont regulated by governing bodies, which have the pouvoir to prevent them from practising if they are unfit to do so. In the.
Patient information leaflet
Dépistage du syndrome de Down
Qu'est-ce que Syndrome de Down. syndrome de Down est a genetic chromosome problem that some people are born with. A person with Down's syndrome can usually be recognised by their typical features. It can also cause learning disability and there are certain medical problems that someone with Down's syndrome has an increased chance of developing. These.
Patient information leaflet
Hémochromatose
Hémochromatose est un inherited (genetic) disorder which causes the body à absorb too much iron from le diet. This excess iron causes damage to organs in which it builds up. The main treatment is the regular removal of blood which helps to remove the excess iron from the body. If treatment is started early, before complications occur, then the.
Patient information leaflet
Puis-je prendre du Glucomannan et Nexplanon ensemble ?
Glucomannan is a type of fibre that can slow down or reduce how much of your contraceptive medication is absorbed into votre bloodstream. This could potentially make the Nexplanon implant less effective at preventing pregnancy. Why this happens Glucomannan is a highly absorbent fibre that forms a thick gel in the stomach and intestines. This gel.
Lectures complémentaires et références
- reticulophagy regulator 1; MedlinePlus, National Library of Medicine.
- Khaminets A, Heinrich T, Mari M, Grumati P, Huebner AK, Akutsu M, Liebmann L, Stolz A, Nietzsche S, Koch N, Mauthe M, Katona I, Qualmann B, Weis J, Reggiori F, Kurth I, Hubner CA, Dikic I. Regulation of endoplasmic reticulum turnover by selective autophagy. Nature. 2015 Jun 18;522(7556):354-8. doi: 10.1038/nature14498. Epub 2015 Jun 3.
- Kurth I, Pamminger T, Hennings JC, Soehendra D, Huebner AK, Rotthier A, Baets J, Senderek J, Topaloglu H, Farrell SA, Nurnberg G, Nurnberg P, De Jonghe P, Gal A, Kaether C, Timmerman V, Hubner CA. Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. Nat Genet. 2009 Nov;41(11):1179-81. doi: 10.1038/ng.464. Epub 2009 Oct 18.
- Mochida K, Oikawa Y, Kimura Y, Kirisako H, Hirano H, Ohsumi Y, Nakatogawa H. Receptor-mediated selective autophagy degrades the endoplasmic reticulum and the nucleus. Nature. 2015 Jun 18;522(7556):359-62. doi: 10.1038/nature14506. Epub 2015 Jun 3.
- Murphy SM, Davidson GL, Brandner S, Houlden H, Reilly MM. Mutation in FAM134B causing severe hereditary sensory neuropathy. J Neurol Neurosurg Psychiatry. 2012 Jan;83(1):119-20. doi: 10.1136/jnnp.2010.228965. Epub 2010 Nov 28.
- Verpoorten N, De Jonghe P, Timmerman V. Disease mechanisms in hereditary sensory and autonomic neuropathies. Neurobiol Dis. 2006 Feb;21(2):247-55. doi: 10.1016/j.nbd.2005.08.004. Epub 2005 Sep 23.
Participez à la conversation
Partagez vos pensées ou expériences avec les autres dans notre communautés de patients.
Demandez, partagez, connectez-vous.
Parcourez les discussions, posez des questions et partagez vos expériences sur des centaines de sujets de santé.
Inscrivez-vous à la newsletter Patient
Votre dose hebdomadaire de conseils de santé clairs et fiables - rédigés pour vous aider à vous sentir informé, confiant et maître de la situation.
En vous abonnant, vous acceptez notre Politique de confidentialité. Vous pouvez vous désabonner à tout moment. Nous ne vendons jamais vos données.