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2k6u
From Proteopedia
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| - | [[Image:2k6u.png|left|200px]] | ||
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{{STRUCTURE_2k6u| PDB=2k6u | SCENE= }} | {{STRUCTURE_2k6u| PDB=2k6u | SCENE= }} | ||
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===The Solution Structure of a Conformationally Restricted Fully Active Derivative of the Human Relaxin-like Factor (RLF)=== | ===The Solution Structure of a Conformationally Restricted Fully Active Derivative of the Human Relaxin-like Factor (RLF)=== | ||
| + | {{ABSTRACT_PUBMED_19086273}} | ||
| - | + | ==Disease== | |
| + | [[http://www.uniprot.org/uniprot/INSL3_HUMAN INSL3_HUMAN]] Defects in INSL3 seems to be a cause of cryptorchidism (CRYPTO) [MIM:[http://omim.org/entry/219050 219050]]; also known as impaired testicular descent. It is one of the most frequent congenital abnormalities in humans, involving 2-5% of male births. Cryptorchidism is associated with increased risk of infertility and testicular cancer. The frequency of INSL3 gene mutations as a cause of cryptorchidism is low.<ref>PMID:11095425</ref><ref>PMID:11746019</ref><ref>PMID:12601553</ref> | ||
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| + | ==Function== | ||
| + | [[http://www.uniprot.org/uniprot/INSL3_HUMAN INSL3_HUMAN]] Seems to play a role in testicular function. May be a trophic hormone with a role in testicular descent in fetal life. Is a ligand for LGR8 receptor. | ||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
| - | <ref group="xtra">PMID:019086273</ref><references group="xtra"/> | + | <ref group="xtra">PMID:019086273</ref><references group="xtra"/><references/> |
[[Category: Bullesbach, E E.]] | [[Category: Bullesbach, E E.]] | ||
[[Category: Hansen, D F.]] | [[Category: Hansen, D F.]] | ||
Revision as of 06:18, 25 March 2013
Contents |
The Solution Structure of a Conformationally Restricted Fully Active Derivative of the Human Relaxin-like Factor (RLF)
Template:ABSTRACT PUBMED 19086273
Disease
[INSL3_HUMAN] Defects in INSL3 seems to be a cause of cryptorchidism (CRYPTO) [MIM:219050]; also known as impaired testicular descent. It is one of the most frequent congenital abnormalities in humans, involving 2-5% of male births. Cryptorchidism is associated with increased risk of infertility and testicular cancer. The frequency of INSL3 gene mutations as a cause of cryptorchidism is low.[1][2][3]
Function
[INSL3_HUMAN] Seems to play a role in testicular function. May be a trophic hormone with a role in testicular descent in fetal life. Is a ligand for LGR8 receptor.
About this Structure
2k6u is a 2 chain structure. Full experimental information is available from OCA.
Reference
- Bullesbach EE, Hass MA, Jensen MR, Hansen DF, Kristensen SM, Schwabe C, Led JJ. Solution structure of a conformationally restricted fully active derivative of the human relaxin-like factor. Biochemistry. 2008 Dec 16;47(50):13308-17. PMID:19086273
- ↑ Tomboc M, Lee PA, Mitwally MF, Schneck FX, Bellinger M, Witchel SF. Insulin-like 3/relaxin-like factor gene mutations are associated with cryptorchidism. J Clin Endocrinol Metab. 2000 Nov;85(11):4013-8. PMID:11095425
- ↑ Marin P, Ferlin A, Moro E, Rossi A, Bartoloni L, Rossato M, Foresta C. Novel insulin-like 3 (INSL3) gene mutation associated with human cryptorchidism. Am J Med Genet. 2001 Nov 1;103(4):348-9. PMID:11746019
- ↑ Canto P, Escudero I, Soderlund D, Nishimura E, Carranza-Lira S, Gutierrez J, Nava A, Mendez JP. A novel mutation of the insulin-like 3 gene in patients with cryptorchidism. J Hum Genet. 2003;48(2):86-90. PMID:12601553 doi:10.1007/s100380300012
