Insulin-like 3 (Leydig insulin-like peptide,Ley-I-L,Relaxin-like factor) [Cleaved into: Insulin-like 3 B chain, Insulin-like 3 A chain]
This gene encodes a member of the insulin-like hormone superfamily. The encoded protein is mainly produced in gonadal tissues. Studies of the mouse counterpart suggest that this gene may be involved in the development of urogenital tract and female fertility. This protein may also act as a hormone to regulate growth and differentiation of gubernaculum, and thus mediating intra-abdominal testicular descent. Mutations in this gene may lead to cryptorchidism. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012],disease:Defects in INSL3 seems to be a cause of cryptorchidism [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.,function: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.,similarity:Belongs to the insulin family.,subunit:Heterodimer of a B chain and an A chain linked by two disulfide bonds.,tissue specificity:Expressed in prenatal and postnatal Leydig cells. Found as well in the corpus luteum, trophoblast, fetal membranes and breast.,
