dynein cytoplasmic 2 heavy chain 1
Última atualização 10 Apr 2023
Atende aos diretrizes editoriais
- BaixarBaixar
- Compartilhar
- Language
- Discussão
- Versão em Áudio
- Adicionar às fontes preferidas no Google
A DYNC2H1 gene provides instructions for making a protein that is part of a group (complex) of proteins called dynein-2. The dynein-2 complex is found in cell structures known as cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells. Dynein-2 is involved in a process called intraflagellar transport (IFT), by which materials are carried within cilia. Specifically, dynein-2 is a motor that uses energy from the molecule ATP to power the transport of materials from the tip of cilia to the base.
Normal function
A DYNC2H1 gene provides instructions for making a protein that is part of a group (complex) of proteins called dynein-2. The dynein-2 complex is found in cell structures known as cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells. Dynein-2 is involved in a process called intraflagellar transport (IFT), by which materials are carried within cilia. Specifically, dynein-2 is a motor that uses energy from the molecule ATP to power the transport of materials from the tip of cilia to the base.
IFT is essential for the assembly and maintenance of cilia. These cell structures play central roles in many different chemical signaling pathways, including a series of reactions called the Sonic Hedgehog pathway. These pathways are important for the growth and division (proliferation) and maturation (differentiation) of cells. In particular, Sonic Hedgehog appears to be essential for the proliferation and differentiation of cells that ultimately give rise to cartilage and bone.
Conditions referring to this gene or chromosome
Other names
DHC1b
DHC2
DYH1B
dynein, cytoplasmic 2, heavy chain 1
hdhc11
Related patient information and medicines
Patient information leaflet
Colposcopia e tratamentos cervicais
See the separate leaflet called Cervical Screening (Cervical Smear Test) 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
Granulomatose com poliangiite
In the condition called granulomatose com poliangiite, the walls of small and medium-sized blood vessels become inflamed. Granulomatosis with polyangiitis (GPA) is one of a group of conditions that causes inflamação of the blood vessels of the body (vasculitis). What causes granulomatosi... In most people with GPA, antineutrophil cytoplasmic.
Patient information leaflet
Gravidez ectópica
Although many ectopic pregnancies are now treated without the need for an operation, you should always see a doctor urgently if you think you have an gravidez ectópica symptoms. Symptoms include lower tummy (abdominal) pain which can become severe. A ruptured ectopic pregnancy is life-threatening, needing emergency surgery. What is an ectopic.
Patient information leaflet
Traço falciforme
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
Amigdalite
Tonsillitis is an infection of the tonsils that causes them to become swollen and sore.
Patient information leaflet
Teste do pezinho em recém-nascidos
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.
Leitura adicional e referências
- dynein cytoplasmic 2 heavy chain 1; MedlinePlus, National Library of Medicine.
- Dagoneau N, Goulet M, Genevieve D, Sznajer Y, Martinovic J, Smithson S, Huber C, Baujat G, Flori E, Tecco L, Cavalcanti D, Delezoide AL, Serre V, Le Merrer M, Munnich A, Cormier-Daire V. DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet. 2009 May;84(5):706-11. doi: 10.1016/j.ajhg.2009.04.016.
- El Hokayem J, Huber C, Couve A, Aziza J, Baujat G, Bouvier R, Cavalcanti DP, Collins FA, Cordier MP, Delezoide AL, Gonzales M, Johnson D, Le Merrer M, Levy-Mozziconacci A, Loget P, Martin-Coignard D, Martinovic J, Mortier GR, Perez MJ, Roume J, Scarano G, Munnich A, Cormier-Daire V. NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. J Med Genet. 2012 Apr;49(4):227-33. doi: 10.1136/jmedgenet-2011-100717.
- Merrill AE, Merriman B, Farrington-Rock C, Camacho N, Sebald ET, Funari VA, Schibler MJ, Firestein MH, Cohn ZA, Priore MA, Thompson AK, Rimoin DL, Nelson SF, Cohn DH, Krakow D. Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. Am J Hum Genet. 2009 Apr;84(4):542-9. doi: 10.1016/j.ajhg.2009.03.015.
- Okamoto T, Nagaya K, Kawata Y, Asai H, Tsuchida E, Nohara F, Okajima K, Azuma H. Novel compound heterozygous mutations in DYNC2H1 in a patient with severe short-rib polydactyly syndrome type III phenotype. Congenit Anom (Kyoto). 2015 Aug;55(3):155-7. doi: 10.1111/cga.12098.
- Schmidts M, Arts HH, Bongers EM, Yap Z, Oud MM, Antony D, Duijkers L, Emes RD, Stalker J, Yntema JB, Plagnol V, Hoischen A, Gilissen C, Forsythe E, Lausch E, Veltman JA, Roeleveld N, Superti-Furga A, Kutkowska-Kazmierczak A, Kamsteeg EJ, Elcioglu N, van Maarle MC, Graul-Neumann LM, Devriendt K, Smithson SF, Wellesley D, Verbeek NE, Hennekam RC, Kayserili H, Scambler PJ, Beales PL; UK10K; Knoers NV, Roepman R, Mitchison HM. Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. J Med Genet. 2013 May;50(5):309-23. doi: 10.1136/jmedgenet-2012-101284. Epub 2013 Mar 1.
Participe da conversa
Compartilhe seus pensamentos ou experiências com outros em nosso comunidades de pacientes.
Pergunte, compartilhe, conecte-se.
Navegue por discussões, faça perguntas e compartilhe experiências em centenas de tópicos de saúde.
Inscreva-se no boletim informativo do Patient
Sua dose semanal de conselhos de saúde claros e confiáveis - escritos para ajudá-lo a se sentir informado, confiante e no controle.
Ao se inscrever, você aceita nossos Política de Privacidade. Você pode cancelar a inscrição a qualquer momento. Nunca vendemos seus dados.