AMH

Chr 19p13.3

anti-Mullerian hormone

Aliases:: MIF, MIS
MANE:: ENST00000221496.5

OMIM: 600957 ↗NCBI: 268 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

AMH · P03971

v62025-08-01

Predicted Aligned Error matrix for AMH — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

68.6/ 100

Low

560 residues

Confidence breakdown

Very high(≥ 90)16%
Confident(70–90)45%
Low(50–70)15%
Very low(< 50)25%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Differences in sex development
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

persistent Mullerian duct syndrome
0.79
Persistent Müllerian duct syndrome
0.72
genetic non-acquired premature ovarian failure
0.26
hereditary disease
0.19
polycystic ovary syndrome
0.13
obesity disorder
0.13
endometriosis
0.12
cancer
0.11
Obesity
0.11
obesity due to melanocortin 4 receptor deficiency
0.11

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Anti-Muellerian hormone

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)