SEC23 homolog B, COPII component
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The SEC23B gene provides instructions for making one component of a large group of interacting proteins called coat protein complex II (COPII). COPII is involved in the formation of vesicles, which are small, sac-like structures that transport proteins and other materials within cells. Specifically, COPII triggers the formation of vesicles in a cellular structure called the endoplasmic reticulum (ER), which is involved in protein processing and transport. These COPII vesicles carry proteins that will be exported out of cells (secreted).
Normal function
The SEC23B gene provides instructions for making one component of a large group of interacting proteins called coat protein complex II (COPII). COPII is involved in the formation of vesicles, which are small, sac-like structures that transport proteins and other materials within cells. Specifically, COPII triggers the formation of vesicles in a cellular structure called the endoplasmic reticulum (ER), which is involved in protein processing and transport. These COPII vesicles carry proteins that will be exported out of cells (secreted).
The SEC23B protein is very similar to the protein produced from a related gene, SEC23A. These proteins are both components of COPII, and they appear to have overlapping functions. In most types of cells, if one of these proteins is missing, the other may be able to compensate for the loss. However, research indicates that the SEC23B protein may have a unique function in developing red blood cells (erythroblasts).
Conditions referring to this gene or chromosome
Altri nomi
HEMPAS
SC23B_HUMAN
transport protein SEC23B
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Ulteriori letture e riferimenti
- SEC23 homolog B, COPII component; MedlinePlus, National Library of Medicine.
- Denecke J, Marquardt T. Congenital dyserythropoietic anemia type II (CDAII/HEMPAS): where are we now? Biochim Biophys Acta. 2009 Sep;1792(9):915-20. doi: 10.1016/j.bbadis.2008.12.005. Epub 2008 Dec 25.
- Fromme JC, Orci L, Schekman R. Coordination of COPII vesicle trafficking by Sec23. Trends Cell Biol. 2008 Jul;18(7):330-6. doi: 10.1016/j.tcb.2008.04.006. Epub 2008 Jun 3.
- Hughes H, Stephens DJ. Assembly, organization, and function of the COPII coat. Histochem Cell Biol. 2008 Feb;129(2):129-51. doi: 10.1007/s00418-007-0363-x. Epub 2007 Dec 4.
- Iolascon A, Andolfo I, Russo R. Congenital dyserythropoietic anemias. Blood. 2020 Sep 10;136(11):1274-1283. doi: 10.1182/blood.2019000948.
- Jing J, Wang B, Liu P. The Functional Role of SEC23 in Vesicle Transportation, Autophagy and Cancer. Int J Biol Sci. 2019 Sep 7;15(11):2419-2426. doi: 10.7150/ijbs.37008. eCollection 2019.
- Russo R, Iolascon A, Andolfo I, Marra R, Rosato BE. Updates on clinical and laboratory aspects of hereditary dyserythropoietic anemias. Int J Lab Hematol. 2024 Aug;46(4):595-605. doi: 10.1111/ijlh.14307. Epub 2024 May 15.
- Schwarz K, Iolascon A, Verissimo F, Trede NS, Horsley W, Chen W, Paw BH, Hopfner KP, Holzmann K, Russo R, Esposito MR, Spano D, De Falco L, Heinrich K, Joggerst B, Rojewski MT, Perrotta S, Denecke J, Pannicke U, Delaunay J, Pepperkok R, Heimpel H. Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. Nat Genet. 2009 Aug;41(8):936-40. doi: 10.1038/ng.405. Epub 2009 Jun 28.
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