2h8b

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Template:STRUCTURE 2h8b

Contents

Solution structure of INSL3

Template:ABSTRACT PUBMED 16867980

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

2h8b is a 2 chain structure. Full experimental information is available from OCA.

Reference

  • Rosengren KJ, Zhang S, Lin F, Daly NL, Scott DJ, Hughes RA, Bathgate RA, Craik DJ, Wade JD. Solution structure and characterization of the LGR8 receptor binding surface of insulin-like peptide 3. J Biol Chem. 2006 Sep 22;281(38):28287-95. Epub 2006 Jul 25. PMID:16867980 doi:10.1074/jbc.M603829200
  1. ↑ 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
  2. ↑ 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
  3. ↑ 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

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