dynein cytoplasmic 2 heavy chain 1
Dernière mise à jour 10 Apr 2023
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La 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
La 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
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Lectures complémentaires et références
- dynein cytoplasmic 2 heavy chain 1; MedlinePlus, National Library of Medicine.
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- 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.
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