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.]] |