exostosin glycosyltransferase 2
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The EXT2 gene provides instructions for producing a protein called exostosin-2. This protein is found in a cell structure called the Golgi apparatus, which modifies newly produced enzymes and other proteins. In the Golgi apparatus, exostosin-2 binds to another protein, exostosin-1, to form a complex that modifies a protein called heparan sulfate.
Normal function
The EXT2 gene provides instructions for producing a protein called exostosin-2. This protein is found in a cell structure called the Golgi apparatus, which modifies newly produced enzymes and other proteins. In the Golgi apparatus, exostosin-2 binds to another protein, exostosin-1, to form a complex that modifies a protein called heparan sulfate.
Heparan sulfate is a complex of sugar molecules that is added to proteins. Heparan sulfate is involved in regulating a variety of body processes, including cell signaling, cell interactions, and immune system functions. Heparan sulfate is also involved in regulating bone formation (ossification) and the growth and specialization (differentiation) of cartilage-forming cells called chondrocytes. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development.
Conditions referring to this gene or chromosome
Other names
exostosin 2
SOTV
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Leitura adicional e referências
- exostosin glycosyltransferase 2; MedlinePlus, National Library of Medicine.
- Clement ND, Porter DE. Hereditary multiple exostoses: anatomical distribution and burden of exostoses is dependent upon genotype and gender. Scott Med J. 2014 Feb;59(1):35-44. doi: 10.1177/0036933013518150. Epub 2014 Jan 10.
- Farhan SM, Wang J, Robinson JF, Prasad AN, Rupar CA, Siu VM; FORGE Canada Consortium; Hegele RA. Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses. J Med Genet. 2015 Oct;52(10):666-75. doi: 10.1136/jmedgenet-2015-103279. Epub 2015 Aug 5.
- Jochmann K, Bachvarova V, Vortkamp A. Heparan sulfate as a regulator of endochondral ossification and osteochondroma development. Matrix Biol. 2014 Feb;34:55-63. doi: 10.1016/j.matbio.2013.11.003. Epub 2013 Dec 24.
- Labonne JD, Vogt J, Reali L, Kong IK, Layman LC, Kim HG. A microdeletion encompassing PHF21A in an individual with global developmental delay and craniofacial anomalies. Am J Med Genet A. 2015 Dec;167A(12):3011-8. doi: 10.1002/ajmg.a.37344. Epub 2015 Sep 3.
- Leisico F, Omeiri J, Le Narvor C, Beaudouin J, Hons M, Fenel D, Schoehn G, Coute Y, Bonnaffe D, Sadir R, Lortat-Jacob H, Wild R. Structure of the human heparan sulfate polymerase complex EXT1-EXT2. Nat Commun. 2022 Nov 19;13(1):7110. doi: 10.1038/s41467-022-34882-6.
- McCormick C, Duncan G, Goutsos KT, Tufaro F. The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate. Proc Natl Acad Sci U S A. 2000 Jan 18;97(2):668-73. doi: 10.1073/pnas.97.2.668.
- Musso N, Caronia FP, Castorina S, Lo Monte AI, Barresi V, Condorelli DF. Somatic loss of an EXT2 gene mutation during malignant progression in a patient with hereditary multiple osteochondromas. Cancer Genet. 2015 Mar;208(3):62-7. doi: 10.1016/j.cancergen.2015.01.002. Epub 2015 Jan 16.
- Romeike BF, Wuyts W. Proximal chromosome 11p contiguous gene deletion syndrome phenotype: case report and review of the literature. Clin Neuropathol. 2007 Jan-Feb;26(1):1-11. doi: 10.5414/npp26001.
- Sefcik R, Earl D, Thorpe S. Hereditary Multiple Osteochondromas. 2000 Aug 3 [updated 2026 Jan 29]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1235/
- Wakui K, Gregato G, Ballif BC, Glotzbach CD, Bailey KA, Kuo PL, Sue WC, Sheffield LJ, Irons M, Gomez EG, Hecht JT, Potocki L, Shaffer LG. Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome. Eur J Hum Genet. 2005 May;13(5):528-40. doi: 10.1038/sj.ejhg.5201366.
- Wuyts W, Waeber G, Meinecke P, Schuler H, Goecke TO, Van Hul W, Bartsch O. Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects. Eur J Hum Genet. 2004 May;12(5):400-6. doi: 10.1038/sj.ejhg.5201163.
- Yang M, Xie H, Xu B, Xiang Q, Wang H, Hu T, Liu S. Identification of a novel EXT2 frameshift mutation in a family with hereditary multiple exostoses by whole-exome sequencing. J Clin Lab Anal. 2021 Sep;35(9):e23968. doi: 10.1002/jcla.23968. Epub 2021 Aug 17.
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