Muellerian-Inhibiting Factor, AMH/MIS (AMH/MIS) Antibody – Mouse Monoclonal

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate N- and C-terminal cleavage products that homodimerize and associate to form a biologically active noncovalent complex. This complex binds to the anti-Mullerian hormone receptor type 2 and causes the regression of Mullerian ducts in the male embryo that would otherwise differentiate into the uterus and fallopian tubes. This protein also plays a role in Leydig cell differentiation and function and follicular development in adult females. Mutations in this gene result in persistent Mullerian duct syndrome. [provided by RefSeq, Jul 2016]

AMH: This glycoprotein, produced by the Sertoli cells of the testis, causes regression of the Muellerian duct. It is also able to inhibit the growth of tumors derived from tissues of Muellerian duct origin. Defects in AMH are the cause of persistent Muellerian duct syndrome type 1 (PMDS1). PMDS1 is a form of male pseudohermaphroditism characterized by a failure of Muellerian duct regression in otherwise normal males. Belongs to the TGF-beta family.

Protein type: Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 19p13.3

Cellular Component: extracellular space; cytoplasm; extracellular region

Molecular Function: growth factor activity; hormone activity; transforming growth factor beta receptor binding; receptor binding

Biological Process: response to drug; sex determination; Mullerian duct regression; cell-cell signaling; gonadal mesoderm development; preantral ovarian follicle growth; sex differentiation; response to organic cyclic substance; urogenital system development; activation of NF-kappaB transcription factor; aging

Disease: Persistent Mullerian Duct Syndrome, Types I And Ii