Amh

Detected in primary follicles and continued to be expressed in follicles in the antral stage. The highest level of AMH expression is present in granulosa cells of secondary, preantral and small antral follicles <4 mm in diameter, whereas expression is lost from follicles at sizes >8 mm.

Plays an important role in several reproductive functions. Induces Muellerian duct regression during male fetal sexual differentiation (PubMed:34155118, PubMed:3754790, PubMed:8469238). Also plays a role in Leydig cell differentiation and function (By similarity). In female acts as a negative regulator of the primordial to primary follicle transition and decreases FSH sensitivity of growing follicles (PubMed:14742691). AMH signals by binding to a specific type-II receptor, AMHR2, that heterodimerizes with type-I receptors (ACVR1 and BMPR1A), and recruiting SMAD proteins that are translocated to the nucleus to regulate target gene expression (PubMed:20861221, PubMed:34155118).

Persistent Muellerian duct syndrome 1

PMDS1

A form of male pseudohermaphroditism characterized by a failure of Muellerian duct regression in otherwise normal males.

None

The disease is caused by variants affecting the gene represented in this entry.

Preproprotein is proteolytically processed to generate N- and C-terminal cleavage products that homodimerize and associate to form a biologically active non-covalent complex (PubMed:2974034, PubMed:8469238). Binding of the non-covalent complex to AMHR2 induces dissociation of the pro-region from the mature C-terminal dimer (PubMed:20861221). The N-terminal portion of the protein, despite having no intrinsic activity, has the role of amplifying the activity of the C-terminus (PubMed:20861221, PubMed:8469238).

Belongs to the TGF-beta family.

In ovaries, AMH is detected in granulosa cells of early growing follicles.

• Secreted

MIF, AMH, Muellerian-inhibiting factor, Anti-Muellerian hormone, Muellerian-inhibiting substance, MIS

• entrezGene:268
• omim:600957
• swissprot:P03971

Proteins

Developmental Biology

59195Da