2l29
From Proteopedia
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{{STRUCTURE_2l29| PDB=2l29 | SCENE= }} | {{STRUCTURE_2l29| PDB=2l29 | SCENE= }} | ||
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===Complex structure of E4 mutant human IGF2R domain 11 bound to IGF-II=== | ===Complex structure of E4 mutant human IGF2R domain 11 bound to IGF-II=== | ||
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{{ABSTRACT_PUBMED_23197533}} | {{ABSTRACT_PUBMED_23197533}} | ||
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+ | ==Disease== | ||
+ | [[http://www.uniprot.org/uniprot/IGF2_HUMAN IGF2_HUMAN]] Epigenetic changes of DNA hypomethylation in IGF2 are a cause of Silver-Russell syndrome (SRS) [MIM:[http://omim.org/entry/180860 180860]]. A clinically heterogeneous condition characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. The phenotypic expression changes during childhood and adolescence, with the facial features and asymmetry usually becoming more subtle with age.<ref>PMID:19066168</ref> | ||
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+ | ==Function== | ||
+ | [[http://www.uniprot.org/uniprot/IGF2_HUMAN IGF2_HUMAN]] The insulin-like growth factors possess growth-promoting activity. In vitro, they are potent mitogens for cultured cells. IGF-II is influenced by placental lactogen and may play a role in fetal development.<ref>PMID:16912056</ref> Preptin undergoes glucose-mediated co-secretion with insulin, and acts as physiological amplifier of glucose-mediated insulin secretion. Exhibits osteogenic properties by increasing osteoblast mitogenic activity through phosphoactivation of MAPK1 and MAPK3.<ref>PMID:16912056</ref> | ||
==About this Structure== | ==About this Structure== | ||
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==See Also== | ==See Also== | ||
*[[Insulin-like growth factor receptor|Insulin-like growth factor receptor]] | *[[Insulin-like growth factor receptor|Insulin-like growth factor receptor]] | ||
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+ | ==Reference== | ||
+ | <references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Crump, M P.]] | [[Category: Crump, M P.]] |
Revision as of 23:13, 24 March 2013
Contents |
Complex structure of E4 mutant human IGF2R domain 11 bound to IGF-II
Template:ABSTRACT PUBMED 23197533
Disease
[IGF2_HUMAN] Epigenetic changes of DNA hypomethylation in IGF2 are a cause of Silver-Russell syndrome (SRS) [MIM:180860]. A clinically heterogeneous condition characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. The phenotypic expression changes during childhood and adolescence, with the facial features and asymmetry usually becoming more subtle with age.[1]
Function
[IGF2_HUMAN] The insulin-like growth factors possess growth-promoting activity. In vitro, they are potent mitogens for cultured cells. IGF-II is influenced by placental lactogen and may play a role in fetal development.[2] Preptin undergoes glucose-mediated co-secretion with insulin, and acts as physiological amplifier of glucose-mediated insulin secretion. Exhibits osteogenic properties by increasing osteoblast mitogenic activity through phosphoactivation of MAPK1 and MAPK3.[3]
About this Structure
2l29 is a 2 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.
See Also
Reference
- ↑ Bartholdi D, Krajewska-Walasek M, Ounap K, Gaspar H, Chrzanowska KH, Ilyana H, Kayserili H, Lurie IW, Schinzel A, Baumer A. Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes. J Med Genet. 2009 Mar;46(3):192-7. doi: 10.1136/jmg.2008.061820. Epub 2008 Dec 9. PMID:19066168 doi:10.1136/jmg.2008.061820
- ↑ Cornish J, Callon KE, Bava U, Watson M, Xu X, Lin JM, Chan VA, Grey AB, Naot D, Buchanan CM, Cooper GJ, Reid IR. Preptin, another peptide product of the pancreatic beta-cell, is osteogenic in vitro and in vivo. Am J Physiol Endocrinol Metab. 2007 Jan;292(1):E117-22. Epub 2006 Aug 15. PMID:16912056 doi:10.1152/ajpendo.00642.2005
- ↑ Cornish J, Callon KE, Bava U, Watson M, Xu X, Lin JM, Chan VA, Grey AB, Naot D, Buchanan CM, Cooper GJ, Reid IR. Preptin, another peptide product of the pancreatic beta-cell, is osteogenic in vitro and in vivo. Am J Physiol Endocrinol Metab. 2007 Jan;292(1):E117-22. Epub 2006 Aug 15. PMID:16912056 doi:10.1152/ajpendo.00642.2005
Categories: Homo sapiens | Crump, M P. | Ellis, R Z. | Forbes, B. | Frago, S. | Hassan, A B. | Hoppe, H. | Jones, E Y. | Prince, S N. | Rezgui, D. | Strickland, M. | Wattana-Amorn, P. | Williams, C. | Zaccheo, O J. | Genomic imprinting | Insulin-like growth factor 2 | Ligand trap | Mannose 6 phosphate receptor | Transport protein