BICD cargo adaptor 2
Zuletzt aktualisiert 18. Aug 2020
Erfüllt die redaktionelle Richtlinien
- HerunterladenHerunterladen
- Teilen
- Language
- Diskussion
- Audio-Version
- Zu bevorzugten Quellen bei Google hinzufügen
Der BICD2 gene provides instructions for making one of a family of proteins called golgins. Golgins help maintain the structure of a cell component called the Golgi apparatus, in which newly produced proteins are modified so they can carry out their functions.
Normal function
Der BICD2 gene provides instructions for making one of a family of proteins called golgins. Golgins help maintain the structure of a cell component called the Golgi apparatus, in which newly produced proteins are modified so they can carry out their functions.
The BICD2 protein is found in all cells. The protein attaches (binds) to a group of proteins called the dynein complex, turning it on (activating it) and helping it bind to other cellular materials for transport. During transport, BICD2 stabilizes the dynein complex along a track-like system of small tubes called microtubules, similar to a conveyer belt. The BICD2 protein helps the dynein complex with protein transport, positioning of cell compartments, mobility of structures within the cell, and many other cell processes.
In nerve cells (neurons), the BICD2 protein helps the dynein complex transport sac-like structures called synaptic vesicles. These structures contain chemical messengers that allow neighboring cells to communicate with one another.
Conditions referring to this gene or chromosome
Other names
bA526D8.1
bic-D 2
bicaudal D homolog 2
coiled-coil protein BICD2
cytoskeleton-like bicaudal D protein homolog 2
homolog of Drosophila bicaudal D
KIAA0699
Related patient information and medicines
Patient information leaflet
Mandelentfernung
What is a tonsillectomy. A tonsillectomy is the surgical removal of the tonsils. In some cases the adenoids are also removed, in which case the operation is known as an adeno-tonsillectomy. Adenoids are made of similar tissue to tonsils and hang from the back of the nose, above your throat, where you cannot see them. They are also part of the.
Patient information leaflet
5:2 Diät
The 5:2 diet is a calorie-restricted diet that involves eating 'normally' for five days out of seven and then 'fasting' on the other two days out of seven. The proposed health effects of the 5:2 diet include weight loss, improvement in life expectancy, protection against certain cancers and protection against dementia. However, the evidence.
Patient information leaflet
Ernährung bei Typ-2-Diabetes
The first-line treatment for type 2 diabetes involves making changes to your lifestyle, through diet, weight control and physical activity. Regular check-ups and medication for diabetes (whether in tablet or injection form) definitely aren't the only way to control your blood sugar (glucose) levels. In fact, there is evidence that many people who.
Medicine leaflet
Natriumoxybat
If you still feel sleepy the next day, do not drive and do not use tools or machines. About sodium oxybate Type of medicine Central nervous system depressant Used for Narcolepsy mit Kataplexie Auch genannt Xyrem® Available as Oral liquid medicine Narcolepsy is a problem which affects your sleep. Disturbed night-time sleep makes you feel very tired.
Medicine leaflet
Promethazin
Promethazin ist an antihistamine. You may need to take one or more doses during a day, depending upon the reason you are taking it. Make sure you carefully follow the directions on the label. Promethazine may affect your ability to drive and to use tools or machines. The most common side-effects are feeling sleepy, headache, dry mouth and blurred.
Patient information leaflet
Pfeiffersches Drüsenfieber
Glandular fever (also known as infectious mononucleosis) is a viral infection that most often affects teenagers and young adults. Although it can make some people feel quite ill, full recovery is usual. What is glandular fever. Glandular fever is a viral infection, mostly caused by the Epstein-Barr virus. The virus can be passed from person to.
Weiterführende Lektüre und Referenzen
- BICD cargo adaptor 2; MedlinePlus, National Library of Medicine.
- Martinez-Carrera LA, Wirth B. Dominant spinal muscular atrophy is caused by mutations in BICD2, an important golgin protein. Front Neurosci. 2015 Nov 5;9:401. doi: 10.3389/fnins.2015.00401. eCollection 2015.
- Neveling K, Martinez-Carrera LA, Holker I, Heister A, Verrips A, Hosseini-Barkooie SM, Gilissen C, Vermeer S, Pennings M, Meijer R, te Riele M, Frijns CJ, Suchowersky O, MacLaren L, Rudnik-Schoneborn S, Sinke RJ, Zerres K, Lowry RB, Lemmink HH, Garbes L, Veltman JA, Schelhaas HJ, Scheffer H, Wirth B. Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy. Am J Hum Genet. 2013 Jun 6;92(6):946-54. doi: 10.1016/j.ajhg.2013.04.011. Epub 2013 May 9.
- Rossor AM, Oates EC, Salter HK, Liu Y, Murphy SM, Schule R, Gonzalez MA, Scoto M, Phadke R, Sewry CA, Houlden H, Jordanova A, Tournev I, Chamova T, Litvinenko I, Zuchner S, Herrmann DN, Blake J, Sowden JE, Acsadi G, Rodriguez ML, Menezes MP, Clarke NF, Auer Grumbach M, Bullock SL, Muntoni F, Reilly MM, North KN. Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2. Brain. 2015 Feb;138(Pt 2):293-310. doi: 10.1093/brain/awu356. Epub 2014 Dec 14.
Artikelverlauf
Artikel auch verfügbar in Englisch, Deutsch, Spanisch, Französisch, Italienisch, Portugiesisch, Hindi, Hebräisch, Arabisch, und Schwedisch.
18. Aug 2020 | Neueste Version
1. Mai 2018 | Ursprünglich veröffentlicht
Nehmen Sie an der Diskussion teil
Teilen Sie Ihre Gedanken oder Erfahrungen mit anderen in unserem Patientengemeinschaften.
Fragen, teilen, verbinden.
Durchsuchen Sie Diskussionen, stellen Sie Fragen und teilen Sie Erfahrungen zu Hunderten von Gesundheitsthemen.
Abonnieren Sie den Patienten-Newsletter
Ihre wöchentliche Dosis klarer, vertrauenswürdiger Gesundheitsberatung - geschrieben, um Ihnen zu helfen, sich informiert, selbstbewusst und in Kontrolle zu fühlen.
Durch das Abonnieren akzeptieren Sie unsere Datenschutzrichtlinie. Sie können sich jederzeit abmelden. Wir verkaufen Ihre Daten niemals.