AMH
Developmental stage
Detected in primary follicles and continued to be expressed in follicles in the antral stage (PubMed:14742691). 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 (PubMed:14742691).
Function
The anti-Muellerian hormone (AMH) plays an important role in several reproductive functions (PubMed:14742691, PubMed:34155118, PubMed:3754790, PubMed:8469238). Anti-Muellerian hormone binds and activates AMHR2, its specific type-II receptor, that heterodimerizes with type-I receptors (ACVR1 and BMPR1A) to regulate target gene expression through downstream SMAD protein signal transduction (PubMed:20861221, PubMed:34155118). Produced and secreted by Sertoli cells of the male fetus, anti-Muellerian hormone induces Muellerian duct regression during male fetal sexual differentiation (PubMed:34155118, PubMed:3754790, PubMed:8469238). In female, it is produced by granulosa cells of the preantral and small antral follicles and acts as a negative regulator of the primordial to primary follicle transition and decreases FSH sensitivity of growing follicles (PubMed:14742691). Also plays a role in Leydig cell differentiation and function (By similarity).
Involvement in disease
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.
Post-translational modifications
The preproprotein is proteolytically processed to generate the AMH prodomain and the anti-Muellerian hormone (PubMed:20861221, PubMed:2974034, PubMed:8469238). Both homodimerize covalently, and homodimers associate to form a non-covalent heterotetrameric complex (PubMed:20861221, PubMed:2974034, PubMed:8469238).
Sequence Similarities
Belongs to the TGF-beta family.
Tissue Specificity
In ovaries, AMH is detected in granulosa cells of early growing follicles.
Cellular localization
- Secreted
Alternative names
MIF, AMH, Anti-Muellerian hormone, Muellerian-inhibiting factor, Muellerian-inhibiting substance, MIS