AMH

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]

Description

Anti-Mullerian hormone

Tissue specificity

Group enriched (pituitary gland, testis)

Subcell location

Vesicles, Aggresome

Predicted location

Secreted to blood

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted secreted proteins

Chromosome

19 (2249309 - 2252073)

Ensembl ID

ENSG00000104899  (ver. 103.38)

Orthologs

Mouse Amh: ENSMUSG00000035262

UniProt

P03971

neXtProt

NX_P03971

Human splice variants
Mouse splice variants

Protein structure