INSL3 Antibody – Rabbit Polyclonal

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]

INSL3: 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. Defects in INSL3 seems to be a cause of cryptorchidism (CRYPTO); 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. Belongs to the insulin family.

Protein type: Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 19p13.2-p12

Cellular Component: extracellular space; perinuclear region of cytoplasm; extracellular region

Molecular Function: G-protein-coupled receptor binding; protease binding; hormone activity; insulin receptor binding; receptor binding

Biological Process: negative regulation of cell proliferation; cell-cell signaling; in utero embryonic development; positive regulation of cell proliferation; positive regulation of cAMP biosynthetic process; male gonad development; spermatogenesis; G-protein signaling, adenylate cyclase inhibiting pathway; oocyte maturation; negative regulation of apoptosis

Disease: Cryptorchidism, Unilateral Or Bilateral