dynein cytoplasmic 1 heavy chain 1
Última actualización 10 de abril de 2023
Cumple con las directrices editoriales
- DescargarDescargar
- Compartir
- Language
- Discusión
- Versión en audio
- Agregar a fuentes preferidas en Google
El DYNC1H1 gene provides instructions for making a protein that is part of a group (complex) of proteins called dynein. This complex is found in the fluid inside cells (cytoplasm). Dynein is turned on (activated) by attaching (binding) to another complex called dynactin. This dynein-dynactin complex binds to various materials within cells. Using energy provided by molecules called ATP, the dynein-dynactin complex moves material along a track-like system of small tubes called microtubules, similar to a conveyer belt. The dynein-dynactin complex is necessary for protein transport, positioning of cell compartments, movement of structures within the cell, and many other cell processes. Dynein helps neighboring nerve cells (neurons) communicate by transporting sac-like structures called synaptic vesicles that contain chemical messengers. When synaptic vesicles are passed from one neuron to another, the dynein-dynactin complex transports the vesicle from the edge of the cell to the nucleus, where the chemical message is received.
Normal function
El DYNC1H1 gene provides instructions for making a protein that is part of a group (complex) of proteins called dynein. This complex is found in the fluid inside cells (cytoplasm). Dynein is turned on (activated) by attaching (binding) to another complex called dynactin. This dynein-dynactin complex binds to various materials within cells. Using energy provided by molecules called ATP, the dynein-dynactin complex moves material along a track-like system of small tubes called microtubules, similar to a conveyer belt. The dynein-dynactin complex is necessary for protein transport, positioning of cell compartments, movement of structures within the cell, and many other cell processes. Dynein helps neighboring nerve cells (neurons) communicate by transporting sac-like structures called synaptic vesicles that contain chemical messengers. When synaptic vesicles are passed from one neuron to another, the dynein-dynactin complex transports the vesicle from the edge of the cell to the nucleus, where the chemical message is received.
The parts (subunits) of a dynein complex are classified by weight as heavy, intermediate, light intermediate, or light chains. Two heavy chain proteins bind together to form the core of the dynein complex. Combinations of intermediate, light intermediate, and light chains make up the rest of the complex. The protein produced from the DYNC1H1 gene is a heavy chain. Other subunits are produced from different genes.
Conditions referring to this gene or chromosome
Otros nombres
cytoplasmic dynein 1 heavy chain 1
cytoplasmic dynein heavy chain 1
DHC1
DHC1a
DNCH1
Dnchc1
DNCL
DNECL
DYHC
DYHC1_HUMAN
dynein heavy chain, cytosolic
dynein, cytoplasmic 1, heavy chain 1
dynein, cytoplasmic, heavy polypeptide 1
HL-3
p22
Related patient information and medicines
Patient information leaflet
See the separate leaflet called Examen de detección cervical (Prueba de Papanicolaou) for more details. Cervical screening has been proven to reduce the number of cases of cervical cancer. The biopsy results When a small sample of tissue (a biopsy) has been taken, it is sent to the laboratory for further examination under a mi... The cell abnormality that can.
Patient information leaflet
Biopsia renal
A kidney biopsy involves taking a small sample of tissue from the kidney. Cells from the kidney can then be looked at in detail. It is used to diagnose and monitor certain conditions. Note : the information below is a general guide only. The arrangements, and the way tests are performed, may vary between different hospitals. Always follow the.
Patient information leaflet
Granulomatosis con poliangeítis
In the condition called granulomatosis with polyangiitis, the walls of small y medium-sized blood vessels become inflamed. What is granulomatosis with polyangiitis and who develops it. Granulomatosis with polyangiitis (GPA) is one of a grupo of conditions that causes inflamación of the blood vessels of the body (vasculitis). GPA affects small.
Patient information leaflet
Embarazo ectópico
Symptoms include lower tummy (abdominal) pain which can become severe. A ruptured ectopic pregnancy is life-threatening, needing emergency surgery. What is an ectopic pregnancy. An embarazo ectópico es when a fertilised egg implants and matures outside the womb (uterine cavity). Most ectopic pregnancies occur in one of the fallopian tubes. How.
Patient information leaflet
Rasgo de células falciformes
If you inherit a gene from one of your parents, called a sickle cell gene, you have a condition called sickle cell trait. If you inherit a sickle cell gene from both parents, you get a double dose of the sickle cell gene. This causes a condition called sickle cell disease (SCD). What is sickle cell trait. Sickle cell trait means having one gene.
Patient information leaflet
prueba del talón del recién nacido
Mothers of all newborn babies are offered testing for certain rare but serious health conditions by testing blood taken from the baby's heel. This is the blood spot screening programme and it is also known as the heel prick test. How is the blood test done. Also, a sudden and severe drop in blood sugar levels can occur. All four devolved nations.
Lecturas adicionales y referencias
- dynein cytoplasmic 1 heavy chain 1; MedlinePlus, National Library of Medicine.
- Eschbach J, Dupuis L. Cytoplasmic dynein in neurodegeneration. Pharmacol Ther. 2011 Jun;130(3):348-63. doi: 10.1016/j.pharmthera.2011.03.004. Epub 2011 Mar 21.
- Harms MB, Ori-McKenney KM, Scoto M, Tuck EP, Bell S, Ma D, Masi S, Allred P, Al-Lozi M, Reilly MM, Miller LJ, Jani-Acsadi A, Pestronk A, Shy ME, Muntoni F, Vallee RB, Baloh RH. Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. Neurology. 2012 May 29;78(22):1714-20. doi: 10.1212/WNL.0b013e3182556c05. Epub 2012 Mar 28.
- Levy JR, Holzbaur EL. Cytoplasmic dynein/dynactin function and dysfunction in motor neurons. Int J Dev Neurosci. 2006 Apr-May;24(2-3):103-11. doi: 10.1016/j.ijdevneu.2005.11.013. Epub 2006 Jan 6.
- Scoto M, Rossor AM, Harms MB, Cirak S, Calissano M, Robb S, Manzur AY, Martinez Arroyo A, Rodriguez Sanz A, Mansour S, Fallon P, Hadjikoumi I, Klein A, Yang M, De Visser M, Overweg-Plandsoen WC, Baas F, Taylor JP, Benatar M, Connolly AM, Al-Lozi MT, Nixon J, de Goede CG, Foley AR, Mcwilliam C, Pitt M, Sewry C, Phadke R, Hafezparast M, Chong WK, Mercuri E, Baloh RH, Reilly MM, Muntoni F. Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy. Neurology. 2015 Feb 17;84(7):668-79. doi: 10.1212/WNL.0000000000001269. Epub 2015 Jan 21.
- Strickland AV, Schabhuttl M, Offenbacher H, Synofzik M, Hauser NS, Brunner-Krainz M, Gruber-Sedlmayr U, Moore SA, Windhager R, Bender B, Harms M, Klebe S, Young P, Kennerson M, Garcia AS, Gonzalez MA, Zuchner S, Schule R, Shy ME, Auer-Grumbach M. Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1. J Neurol. 2015 Sep;262(9):2124-34. doi: 10.1007/s00415-015-7727-2. Epub 2015 Jun 24.
- Weedon MN, Hastings R, Caswell R, Xie W, Paszkiewicz K, Antoniadi T, Williams M, King C, Greenhalgh L, Newbury-Ecob R, Ellard S. Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. Am J Hum Genet. 2011 Aug 12;89(2):308-12. doi: 10.1016/j.ajhg.2011.07.002. Epub 2011 Aug 4.
Historial del artículo
Artículo también disponible en Inglés, Alemán, Español, Francés, Italiano, Portugués, Hindi, Hebreo, Árabe, y Sueco.
10 de abril de 2023 | Última versión
1 de mayo de 2018 | Publicado originalmente
Únete a la conversación
Comparte tus pensamientos o experiencias con otros en nuestro comunidades de pacientes.
Pregunta, comparte, conecta.
Navega por discusiones, haz preguntas y comparte experiencias en cientos de temas de salud.
Suscríbete al boletín de Patient
Tu dosis semanal de consejos de salud claros y confiables, escritos para ayudarte a sentirte informado, seguro y en control.
Al suscribirte aceptas nuestros Política de Privacidad. Puedes darte de baja en cualquier momento. Nunca vendemos tus datos.