3e0g
From Proteopedia
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{{STRUCTURE_3e0g| PDB=3e0g | SCENE= }} | {{STRUCTURE_3e0g| PDB=3e0g | SCENE= }} | ||
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===Structure of the Leukemia Inhibitory Factor Receptor (LIF-R) domains D1-D5=== | ===Structure of the Leukemia Inhibitory Factor Receptor (LIF-R) domains D1-D5=== | ||
| + | {{ABSTRACT_PUBMED_18775332}} | ||
| - | + | ==Disease== | |
| + | [[http://www.uniprot.org/uniprot/LIFR_HUMAN LIFR_HUMAN]] Defects in LIFR are the cause of Stueve-Wiedemann syndrome (SWS) [MIM:[http://omim.org/entry/601559 601559]]; also knowns as Schwartz-Jampel syndrome type 2 (SJS2). SWS is a severe autosomal recessive condition and belongs to the group of the bent-bone dysplasias. SWS is characterized by bowing of the lower limbs, with internal cortical thickening, wide metaphyses with abnormal trabecular pattern, and camptodactyly. Additional features include feeding and swallowing difficulties, as well as respiratory distress and hyperthermic episodes, which cause death in the first months of life. The rare survivors develop progressive scoliosis, spontaneous fractures, bowing of the lower limbs, with prominent joints and dysautonomia symptoms, including temperature instability, absent corneal and patellar reflexes, and smooth tongue.<ref>PMID:14740318</ref> Note=A chromosomal aberration involving LIFR is found in salivary gland pleiomorphic adenomas, the most common benign epithelial tumors of the salivary gland. Translocation t(5;8)(p13;q12) with PLAG1. | ||
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| + | ==Function== | ||
| + | [[http://www.uniprot.org/uniprot/LIFR_HUMAN LIFR_HUMAN]] Signal-transducing molecule. May have a common pathway with IL6ST. The soluble form inhibits the biological activity of LIF by blocking its binding to receptors on target cells. | ||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
| - | <ref group="xtra">PMID:018775332</ref><references group="xtra"/> | + | <ref group="xtra">PMID:018775332</ref><references group="xtra"/><references/> |
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Garcia, K C.]] | [[Category: Garcia, K C.]] | ||
Revision as of 23:05, 24 March 2013
Contents |
Structure of the Leukemia Inhibitory Factor Receptor (LIF-R) domains D1-D5
Template:ABSTRACT PUBMED 18775332
Disease
[LIFR_HUMAN] Defects in LIFR are the cause of Stueve-Wiedemann syndrome (SWS) [MIM:601559]; also knowns as Schwartz-Jampel syndrome type 2 (SJS2). SWS is a severe autosomal recessive condition and belongs to the group of the bent-bone dysplasias. SWS is characterized by bowing of the lower limbs, with internal cortical thickening, wide metaphyses with abnormal trabecular pattern, and camptodactyly. Additional features include feeding and swallowing difficulties, as well as respiratory distress and hyperthermic episodes, which cause death in the first months of life. The rare survivors develop progressive scoliosis, spontaneous fractures, bowing of the lower limbs, with prominent joints and dysautonomia symptoms, including temperature instability, absent corneal and patellar reflexes, and smooth tongue.[1] Note=A chromosomal aberration involving LIFR is found in salivary gland pleiomorphic adenomas, the most common benign epithelial tumors of the salivary gland. Translocation t(5;8)(p13;q12) with PLAG1.
Function
[LIFR_HUMAN] Signal-transducing molecule. May have a common pathway with IL6ST. The soluble form inhibits the biological activity of LIF by blocking its binding to receptors on target cells.
About this Structure
3e0g is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
- Skiniotis G, Lupardus PJ, Martick M, Walz T, Garcia KC. Structural organization of a full-length gp130/LIF-R cytokine receptor transmembrane complex. Mol Cell. 2008 Sep 5;31(5):737-48. PMID:18775332 doi:10.1016/j.molcel.2008.08.011
- ↑ Dagoneau N, Scheffer D, Huber C, Al-Gazali LI, Di Rocco M, Godard A, Martinovic J, Raas-Rothschild A, Sigaudy S, Unger S, Nicole S, Fontaine B, Taupin JL, Moreau JF, Superti-Furga A, Le Merrer M, Bonaventure J, Munnich A, Legeai-Mallet L, Cormier-Daire V. Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. Am J Hum Genet. 2004 Feb;74(2):298-305. Epub 2004 Jan 21. PMID:14740318 doi:S0002-9297(07)61840-0
