glypican 3
Última actualización 18 Aug 2020
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El GPC3 gene provides instructions for making a protein called glypican 3. This protein is one of several glypicans in humans, each of which consists of a core protein attached to long sugar molecules called heparan sulfate chains. Glypicans are anchored to the outer cell membrane, where they interact with a variety of other proteins outside the cell. Glypicans appear to play important roles in development before birth. These proteins are involved in numerous cell functions, including regulating cell growth and division (cell proliferation) and cell survival.
Normal function
El GPC3 gene provides instructions for making a protein called glypican 3. This protein is one of several glypicans in humans, each of which consists of a core protein attached to long sugar molecules called heparan sulfate chains. Glypicans are anchored to the outer cell membrane, where they interact with a variety of other proteins outside the cell. Glypicans appear to play important roles in development before birth. These proteins are involved in numerous cell functions, including regulating cell growth and division (cell proliferation) and cell survival.
Several studies have found that glypican 3 interacts with other proteins at the surface of cells to restrain cell proliferation. Specifically, glypican 3 blocks (inhibits) a developmental pathway called the hedgehog signaling pathway. This pathway is critical for cell proliferation, cell specialization, and the normal shaping (patterning) of many parts of the body during embryonic development.
Researchers believe that in some cell types, glypican 3 may act as a tumour suppressor, which is a protein that prevents cells from growing and dividing in an uncontrolled way to form a cancerous tumour. Glypican 3 may also cause some types of cells to self-destruct (undergo apoptosis) when they are no longer needed, which can help keep growth in check.
Although glypican 3 is known primarily as an inhibitor of cell growth and cell division, in some tissues it appears to have the opposite effect. Research suggests that in certain types of cells, such as cells in the liver, glypican 3 may interact with proteins called growth factors to promote cell growth and cell division.
Conditions referring to this gene or chromosome
Otros nombres
DGSX
glypican proteoglycan 3
glypican-3
GPC3_HUMAN
GTR2-2
Intestinal protein OCI-5
MXR7
OCI-5
SGBS1
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Lecturas adicionales y referencias
- glypican 3; MedlinePlus, National Library of Medicine.
- Capurro MI, Xu P, Shi W, Li F, Jia A, Filmus J. Glypican-3 inhibits Hedgehog signaling during development by competing with patched for Hedgehog binding. Dev Cell. 2008 May;14(5):700-11. doi: 10.1016/j.devcel.2008.03.006.
- Cottereau E, Mortemousque I, Moizard MP, Burglen L, Lacombe D, Gilbert-Dussardier B, Sigaudy S, Boute O, David A, Faivre L, Amiel J, Robertson R, Viana Ramos F, Bieth E, Odent S, Demeer B, Mathieu M, Gaillard D, Van Maldergem L, Baujat G, Maystadt I, Heron D, Verloes A, Philip N, Cormier-Daire V, Froute MF, Pinson L, Blanchet P, Sarda P, Willems M, Jacquinet A, Ratbi I, Van Den Ende J, Lackmy-Port Lis M, Goldenberg A, Bonneau D, Rossignol S, Toutain A. Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature. Am J Med Genet C Semin Med Genet. 2013 May;163C(2):92-105. doi: 10.1002/ajmg.c.31360. Epub 2013 Apr 18.
- Davoodi J, Kelly J, Gendron NH, MacKenzie AE. The Simpson-Golabi-Behmel syndrome causative glypican-3, binds to and inhibits the dipeptidyl peptidase activity of CD26. Proteomics. 2007 Jun;7(13):2300-10. doi: 10.1002/pmic.200600654.
- Nisbet AF, Hathaway ER, Kalish JM. Simpson-Golabi-Behmel Syndrome Type 1. 2006 Dec 19 [updated 2024 Nov 14]. 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/NBK1219/
- Sakazume S, Okamoto N, Yamamoto T, Kurosawa K, Numabe H, Ohashi Y, Kako Y, Nagai T, Ohashi H. GPC3 mutations in seven patients with Simpson-Golabi-Behmel syndrome. Am J Med Genet A. 2007 Aug 1;143A(15):1703-7. doi: 10.1002/ajmg.a.31822.
- Schmidt J, Hollstein R, Kaiser FJ, Gillessen-Kaesbach G. Molecular analysis of a novel intragenic deletion in GPC3 in three cousins with Simpson-Golabi-Behmel syndrome. Am J Med Genet A. 2017 May;173(5):1400-1405. doi: 10.1002/ajmg.a.38188. Epub 2017 Mar 29.
- Veugelers M, Cat BD, Muyldermans SY, Reekmans G, Delande N, Frints S, Legius E, Fryns JP, Schrander-Stumpel C, Weidle B, Magdalena N, David G. Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene. Hum Mol Genet. 2000 May 22;9(9):1321-8. doi: 10.1093/hmg/9.9.1321.
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