2k6t: Difference between revisions
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{{STRUCTURE_2k6t| PDB=2k6t | SCENE= }} | {{STRUCTURE_2k6t| PDB=2k6t | SCENE= }} | ||
===Solution structure of the relaxin-like factor=== | |||
{{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> | |||
==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 19:44, 24 March 2013
Solution structure of the relaxin-like factorSolution structure of the relaxin-like factor
Template:ABSTRACT PUBMED 19086273
DiseaseDisease
[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]
FunctionFunction
[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 StructureAbout this Structure
2k6t is a 2 chain structure. Full experimental information is available from OCA.
ReferenceReference
- ↑ 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