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GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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AMH
anti-Mullerian hormone
Chromosome 19 · 19p13.3
NCBI Gene: 268Ensembl: ENSG00000104899.8HGNC: HGNC:464UniProt: P03971
419PubMed Papers
21Diseases
0Drugs
30Pathogenic Variants
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of gene expressionprotein bindingGO:0005615Mullerian duct regressionpersistent Mullerian duct syndromePersistent Müllerian duct syndromegenetic non-acquired premature ovarian failuregenetic disorder
✦AI Summary

Anti-Müllerian hormone (AMH) is a transforming growth factor-beta superfamily peptide that plays critical roles in reproductive and non-reproductive physiology. Produced by Sertoli cells during male fetal development and by granulosa cells of preantral and small antral follicles in females, AMH functions as a negative regulator of follicle development 1. AMH binds its type-II receptor (AMHR2) and heterodimerizes with type-I receptors to activate SMAD-mediated signaling pathways that inhibit the primordial-to-primary follicle transition and decrease FSH sensitivity of growing follicles 2. In males, AMH induces Müllerian duct regression during fetal sexual differentiation. Circulating AMH levels reflect the ovarian reserve and follicle pool size, exhibiting peak levels in the early 20s before declining toward menopause 1. In polycystic ovary syndrome (PCOS), markedly elevated AMH levels contribute to anovulation through excessive pre-antral follicle growth and impaired antral follicle maturation 2. AMH positively correlates with the LH/FSH ratio in lean PCOS patients, indicating direct involvement in neuroendocrine dysfunction 3. Beyond reproduction, AMH promotes osteoblast differentiation and bone mineralization 4 and exhibits protective effects through BRCA1 downregulation in ovarian tissue 5. Given AMH's ability to inhibit apoptosis and regulate cell proliferation, it has emerged as a therapeutic target in oncology and bone metabolism research.

Sources cited
1
AMH is produced by granulosa cells of preantral and small antral follicles and acts as a follicular gatekeeper limiting follicle growth initiation; circulating levels peak in early 20s before declining to menopause
PMID: 24430863
2
AMH inhibits FSH action on granulosa cells and blocks follicle differentiation in PCOS through elevated pre-antral follicle growth and excessive AMH expression
PMID: 27566840
3
AMH positively correlates with the LH/FSH ratio in lean PCOS patients and serves as an intermediary variable in neuroendocrine dysfunction
PMID: 38589425
4
AMH receptor type 2 (AMHR2) is expressed in human osteoblasts, and exogenous AMH stimulates osteogenic gene expression and bone mineralization
PMID: 37913790
5
Recombinant AMH downregulates BRCA1 expression in human ovarian cortex, suggesting protective effects on ovarian reserve
PMID: 33084436
Disease Associationsⓘ21
persistent Mullerian duct syndromeOpen Targets
0.78Strong
Persistent Müllerian duct syndromeOpen Targets
0.72Strong
genetic non-acquired premature ovarian failureOpen Targets
0.26Weak
genetic disorderOpen Targets
0.19Weak
polycystic ovary syndromeOpen Targets
0.13Weak
obesityOpen Targets
0.12Weak
endometriosisOpen Targets
0.11Weak
cancerOpen Targets
0.11Weak
systemic lupus erythematosusOpen Targets
0.10Suggestive
46,XY disorder of sex development due to isolated 17,20 lyase deficiencyOpen Targets
0.10Suggestive
chronic kidney diseaseOpen Targets
0.10Suggestive
46,XY complete gonadal dysgenesisOpen Targets
0.10Suggestive
breast cancerOpen Targets
0.10Suggestive
46,XX testicular disorder of sex developmentOpen Targets
0.09Suggestive
Timothy syndromeOpen Targets
0.09Suggestive
46,XY partial gonadal dysgenesisOpen Targets
0.09Suggestive
rheumatoid arthritisOpen Targets
0.09Suggestive
endometrial cancerOpen Targets
0.09Suggestive
cryptorchidismOpen Targets
0.09Suggestive
posterior cortical atrophyOpen Targets
0.09Suggestive
Persistent Muellerian duct syndrome 1UniProt
Pathogenic Variants30
NM_000479.5(AMH):c.118C>T (p.Arg40Ter)Pathogenic
Persistent Mullerian duct syndrome|Differences in sex development
★★☆☆2025→ Residue 40
NM_000479.5(AMH):c.301G>A (p.Gly101Arg)Likely pathogenic
Persistent Mullerian duct syndrome|Differences in sex development
★★☆☆2025→ Residue 101
NM_000479.5(AMH):c.451C>T (p.Pro151Ser)Pathogenic
not provided|Persistent Mullerian duct syndrome
★★☆☆2025→ Residue 151
NM_000479.5(AMH):c.208dup (p.Leu70fs)Pathogenic
not provided
★★☆☆2025→ Residue 70
NM_000479.5(AMH):c.209del (p.Leu70fs)Pathogenic
Persistent Mullerian duct syndrome
★★☆☆2025→ Residue 70
NM_000479.5(AMH):c.1112G>A (p.Trp371Ter)Pathogenic
not provided
★★☆☆2025→ Residue 371
NM_000479.5(AMH):c.343_344del (p.Leu115fs)Pathogenic
Persistent Mullerian duct syndrome|not provided
★★☆☆2024→ Residue 115
NM_000479.5(AMH):c.649C>T (p.Gln217Ter)Pathogenic
Persistent Mullerian duct syndrome
★★☆☆2024→ Residue 217
NM_000479.5(AMH):c.1165G>T (p.Glu389Ter)Pathogenic
Persistent Mullerian duct syndrome
★★☆☆2021→ Residue 389
NM_000479.5(AMH):c.25del (p.Leu9fs)Pathogenic
not provided
★☆☆☆2025→ Residue 9
NM_000479.5(AMH):c.1507T>C (p.Tyr503His)Pathogenic
not provided
★☆☆☆2025→ Residue 503
NM_000479.5(AMH):c.1430T>C (p.Val477Ala)Likely pathogenic
Persistent Mullerian duct syndrome
★☆☆☆2025→ Residue 477
NM_000479.5(AMH):c.571C>T (p.Arg191Ter)Pathogenic
Persistent mullerian duct syndrome, type I|Persistent Mullerian duct syndrome
★☆☆☆2024→ Residue 191
NM_000479.5(AMH):c.1414C>T (p.Arg472Cys)Likely pathogenic
not provided
★☆☆☆2024→ Residue 472
NM_000479.5(AMH):c.472_485del (p.Pro158fs)Pathogenic
Persistent mullerian duct syndrome, type I|not provided
★☆☆☆2024→ Residue 158
NM_000479.5(AMH):c.1016T>C (p.Leu339Pro)Likely pathogenic
not provided
★☆☆☆2024→ Residue 339
NM_000479.5(AMH):c.1015dup (p.Leu339fs)Likely pathogenic
Persistent Mullerian duct syndrome
★☆☆☆2024→ Residue 339
NM_000479.5(AMH):c.1047_1056dup (p.Thr353fs)Likely pathogenic
Persistent Mullerian duct syndrome
★☆☆☆2024→ Residue 353
NM_000479.5(AMH):c.1683A>T (p.Ter561Cys)Likely pathogenic
Persistent Mullerian duct syndrome
★☆☆☆2024→ Residue 561
NM_000479.5(AMH):c.412+3A>GPathogenic
not provided
★☆☆☆2024
View on ClinVar ↗
Related Genes
ACVR1Protein interaction96%BMPR1AProtein interaction96%CHRDProtein interaction93%SOX9Protein interaction92%GNRH1Protein interaction92%NBL1Protein interaction91%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
28%
Ovary
19%
Liver
15%
Lung
14%
Heart
3%
Gene Interaction Network
Click a node to explore
AMHACVR1BMPR1ACHRDSOX9GNRH1NBL1
PROTEIN STRUCTURE
Preparing viewer…
PDB7L0J · 2.60 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.95LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.70 [1.30–1.95]
RankingsWhere AMH stands among ~20K protein-coding genes
  • #679of 20,598
    Most Researched419 · top 5%
  • #1,789of 5,498
    Most Pathogenic Variants30
  • #17,694of 17,882
    Most Constrained (LOEUF)1.95
Genes detectedAMH
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
The physiology and clinical utility of anti-Mullerian hormone in women.
PMID: 24430863
Hum Reprod Update · 2014
1.00
2
Interactions between androgens, FSH, anti-Müllerian hormone and estradiol during folliculogenesis in the human normal and polycystic ovary.
PMID: 27566840
Hum Reprod Update · 2016
0.90
3
Mechanism of elevated LH/FSH ratio in lean PCOS revisited: a path analysis.
PMID: 38589425
Sci Rep · 2024
0.80
4
AMH inhibits androgen production in human theca cells.
PMID: 36356855
J Steroid Biochem Mol Biol · 2023
0.76
5
The Effect of AMH on Folliculogenesis.
PMID: 40408029
Reprod Sci · 2025
0.70