AMH

Gene Information
 
Gene Symbol
AMH
 
Aliases
MIF, MIS
 
Entrez Gene ID
268
 
Gene Name
Anti-Mullerian hormone
 
Chromosomal Location
19p13.3
 
HGNC ID
 
Summary
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]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

SNPs

SNP Id
Upstream Sequence
SNP
Downstream Sequence Functional Significance References
rs10407022 AGAAGACTTGGACTGGCCTCCAGGCA
G/T
CCCACAAGAGCCTCTGTGCCTGGTG I49S 23371438, 18230658
rs8112524 AGAAGACTTGGACTGGCCTCCAGGCA
G/T
CCCACAAGAGCCTCTGTGCCTGGTG Intron variant,upstream variant 2KB 23371438

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0001655 Biological process Urogenital system development IBA 21873635
GO:0001880 Biological process Mullerian duct regression IBA 21873635
GO:0001880 Biological process Mullerian duct regression IDA 14695376
GO:0001880 Biological process Mullerian duct regression NAS 14750901
GO:0007267 Biological process Cell-cell signaling TAS 3754790
Protein Information
 
Protein Name
Muellerian-inhibiting factor, Mullerian inhibiting factor, Mullerian inhibiting substance, anti-Muellerian hormone, muellerian-inhibiting substance
 
Function
This glycoprotein, produced by the Sertoli cells of the testis, causes regression of the Muellerian duct. It is also able to inhibit the growth of tumors derived from tissues of Muellerian duct origin
 
Refseq Proteins
 
UniProt
 
Pfam
Pfam Accession Pfam ID
PF04709 AMH_N
PF00019 TGF_beta
Pathways
 
KEGG
 
Reactome
 

cAMP signaling pathway
Cytokine-cytokine receptor interaction
TGF-beta signaling pathway
Hippo signaling pathway

 

Signaling by BMP

Interactions
 
STRING MINT IntAct
ENSP00000483403 P10912
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Endocrine System Diseases
PCOS
Reproductive disorders
Persistent Mullerian Duct Syndrome
Female Urogenital Diseases
References
 
 
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
 
 
Rotterdam criteria 
Related 
46 women with PCOS and 25 age-matched ovulatory controls 
Women with PCOS with the highest levels of MIS had higher ovarian volumes and values of LH, T, A, and insulin 
 
 
 
 
Related 
29 (13 controls, 16 PCO ) 
AMH levels are higher in polycystic ovaries as compared to normal ovaries 
 
Hyperandrogenism and oligoanovulation 
 
 
Direct 
 
AMH level is increased in PCOS 
 
PCOS 
 
 
Direct 
100 women with PCOS,  
These data on serum AMH levels in four major phenotypes of PCOS allow its use as an additional diagnostic criterion for diagnosis 
 
PCOS 
 
Rotterdam criteria 
Direct 
438 women attending the fertility clinic 
Subfertile women with PCOS secrete significantly more AMH per antral follicle than women with PCOM only and control women. 

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