The protein encoded by this gene is aninsulin likehormone produced mainly ingonadal tissues in males and females. Studies of the mouse counterpart suggest that this gene may be involved in the development ofurogenital tract andfemale fertility. INSL-3 initiates meiotic progression in follicle-enclosedoocytes by mediating a reduction in intra-oocyte cAMP concentration by activating leucine-rich repeat-containingG protein-coupled receptor 8 (LGR8).[7] It may also act as a hormone to regulate growth and differentiation ofgubernaculum, and thus mediating intra-abdominaltesticular descent. Themutations 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 12 July 2025).PMID10982185.{{cite journal}}: CS1 maint: DOI inactive as of July 2025 (link)
