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Insulin-like 3 is a protein that in humans is encoded by the INSL3gene.[5][6]
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Transcription
Function
The protein encoded by this gene is an insulin like hormone produced mainly in gonadal tissues in males and females. Studies of the mouse counterpart suggest that this gene may be involved in the development of urogenital tract and female fertility. INSL-3 initiates meiotic progression in follicle-enclosed oocytes by mediating a reduction in intra-oocyte cAMP concentration by activating leucine-rich repeat-containing G protein-coupled receptor 8 (LGR8).[7] It may also act as a hormone to regulate growth and differentiation of gubernaculum, and thus mediating intra-abdominal testicular descent. The mutations in this gene may lead to, but not a frequent cause of, cryptorchidism.[6]
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Burkhardt E, Adham IM, Brosig B, Gastmann A, Mattei MG, Engel W (March 1994). "Structural organization of the porcine and human genes coding for a Leydig cell-specific insulin-like peptide (LEY I-L) and chromosomal localization of the human gene (INSL3)". Genomics. 20 (1): 13–9. doi:10.1006/geno.1994.1121. PMID8020942.
Macchi P, Villa A, Giliani S, Sacco MG, Frattini A, Porta F, Ugazio AG, Johnston JA, Candotti F, O'Shea JJ (September 1995). "Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)". Nature. 377 (6544): 65–8. Bibcode:1995Natur.377...65M. doi:10.1038/377065a0. PMID7659163. S2CID4329874.
Tashima LS, Hieber AD, Greenwood FC, Bryant-Greenwood GD (February 1995). "The human Leydig insulin-like (hLEY I-L) gene is expressed in the corpus luteum and trophoblast". The Journal of Clinical Endocrinology and Metabolism. 80 (2): 707–10. doi:10.1210/jcem.80.2.7852540. PMID7852540.
Witthuhn BA, Silvennoinen O, Miura O, Lai KS, Cwik C, Liu ET, Ihle JN (July 1994). "Involvement of the Jak-3 Janus kinase in signalling by interleukins 2 and 4 in lymphoid and myeloid cells". Nature. 370 (6485): 153–7. Bibcode:1994Natur.370..153W. doi:10.1038/370153a0. PMID8022486. S2CID11711979.
Burkhardt E, Adham IM, Hobohm U, Murphy D, Sander C, Engel W (July 1994). "A human cDNA coding for the Leydig insulin-like peptide (Ley I-L)". Human Genetics. 94 (1): 91–4. doi:10.1007/BF02272850. PMID8034302. S2CID11255499.
Krausz C, Quintana-Murci L, Fellous M, Siffroi JP, McElreavey K (April 2000). "Absence of mutations involving the INSL3 gene in human idiopathic cryptorchidism". Molecular Human Reproduction. 6 (4): 298–302. doi:10.1093/molehr/6.4.298. PMID10729310.
Schumacher RF, Mella P, Badolato R, Fiorini M, Savoldi G, Giliani S, Villa A, Candotti F, Tampalini A, O'Shea JJ, Notarangelo LD (January 2000). "Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism". Human Genetics. 106 (1): 73–9. doi:10.1007/s004390051012 (inactive 2024-04-02). PMID10982185.{{cite journal}}: CS1 maint: DOI inactive as of April 2024 (link)
This page was last edited on 12 May 2024, at 18:47