AMH anti-Mullerian hormone [Homo sapiens (human)] - Gene

Summary

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Official Symbol: AMHprovided by HGNC
Official Full Name: anti-Mullerian hormoneprovided by HGNC
Primary source: HGNC:464
See related: Ensembl:ENSG00000104899; HPRD:02979; MIM:600957; Vega:OTTHUMG00000180415
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MIF; MIS
Summary: Anti-Mullerian hormone is a member of the transforming growth factor-beta gene family which mediates male sexual differentiation. Anti-Mullerian hormone causes the regression of Mullerian ducts which would otherwise differentiate into the uterus and fallopian tubes. Some mutations in the anti-Mullerian hormone result in persistent Mullerian duct syndrome. [provided by RefSeq, Jul 2008]

Genomic context

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Location :: 19p13.3

Sequence :: Chromosome: 19; NC_000019.9 (2249113..2252072)

See AMH in Epigenomics, MapViewer

Chromosome 19 - NC_000019.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

AMH is strongly associated with live-birth rates after IVF-intracytoplasmic sperm injection.
Title: Antimüllerian hormone levels are strongly associated with live-birth rates after assisted reproduction.
Serum AMH values were negligible for postmenopausal women older than 65 years.
Title: Anti-Müllerian hormone level in older women: detection of granulosa cell tumor recurrence.
Data show the anti-Mullerian hormone receptor diabody refolding protocol.
Title: High level prokaryotic expression of anti-Müllerian inhibiting substance type II receptor diabody, a new recombinant antibody for in vivo ovarian cancer imaging.
Data suggest that endometriosis and endometrioma do not result in lower anti-Mullerian hormone (AMH) serum levels; AMH serum levels are decreased in women with previous endometrioma surgery independently of current endometrioma.
Title: In women with endometriosis anti-Müllerian hormone levels are decreased only in those with previous endometrioma surgery.
AMH is a sensitive marker for ovarian damage due to previous cyclophosphamide exposure in women with systemic lupus erythematosus.
Title: Anti-müllerian hormone and ovarian reserve in systemic lupus erythematosus.
Women with polycystic ovary syndrome are considered to have significantly lower levels of AMH as compared with controls. [review]
Title: [Anti-Mullerian hormone- its role in the pathogenesis of the polycystic ovary syndrome].
Anti-Mullerian hormone serum values may predict a decrease in ovarian reserve during assisted reproduction therapy
Title: Anti-Müllerian hormone serum values and ovarian reserve: can it predict a decrease in fertility after ovarian stimulation by ART cycles?
investigation of cut-off serum levels of anti-Mullerian hormone for diagnosis of polycystic ovary syndrome in women in South Korea
Title: Differences of the association of anti-Müllerian hormone with clinical or biochemical characteristics between women with and without polycystic ovary syndrome.
The results suggest that the decrease in anti-Mullerian hormone (AMH) plasma levels is related to the origin of nonobstructive azoospermia (NOA), with low values in genetic NOA and values similar to obstructive azoospermia in cytotoxic NOA.
Title: Decrease of anti-Mullerian hormone in genetic spermatogenic failure.
investigation of usefulness of anti-Mullerian hormone level in blood as diagnostic marker for infertility in women who previously underwent chemoradiotherapy for childhood cancer
Title: Association between self-reported questionnaire data on fertility and results of hormone analyses in women after childhood cancer: a cross-sectional study.

Submit: New GeneRIF Correction See all (130)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Persistent Mullerian duct syndrome

MIM: 261550

Genetic Testing Registry

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
P03971	Q16671	AMHR2	HPRD	PubMed
P03971	P00533	EGFR	HPRD	PubMed
P03971	Q92824	PCSK5	HPRD	PubMed
BioGRID:106765	BioGRID:120503	ARL8B	BioGRID	PubMed	Two-hybrid
BioGRID:106765	BioGRID:116183	COPS5	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106765	BioGRID:108420	ETV5	BioGRID	PubMed	Two-hybrid
BioGRID:106765	BioGRID:127499	ZMAT2	BioGRID	PubMed	Two-hybrid

Pathways from BioSystems

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ALK2 signaling events, organism-specific biosystem (from Pathway Interaction Database)
ALK2 signaling events, organism-specific biosystem
ALK2 signaling events
Cytokine-cytokine receptor interaction, organism-specific biosystem (from KEGG)
Cytokine-cytokine receptor interaction, organism-specific biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
Cytokine-cytokine receptor interaction, conserved biosystem (from KEGG)
Cytokine-cytokine receptor interaction, conserved biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
Hippo signaling pathway, organism-specific biosystem (from KEGG)
Hippo signaling pathway, organism-specific biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
Hippo signaling pathway, conserved biosystem (from KEGG)
Hippo signaling pathway, conserved biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
TGF-beta signaling pathway, organism-specific biosystem (from KEGG)
TGF-beta signaling pathway, organism-specific biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
TGF-beta signaling pathway, conserved biosystem (from KEGG)
TGF-beta signaling pathway, conserved biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...

General gene information

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Markers

RH71348 (e-PCR)
- UniSTS:34623

AMH_42 (e-PCR)
- UniSTS:276163

AMH (e-PCR)
- UniSTS:253947

Genotypes

See AMH SNP Geneview Report
See AMH SNP Genotype Report
See AMH SNP Variation Viewer Report

Homology

Homologs of the AMH gene: The AMH gene is conserved in chimpanzee, Rhesus monkey, cow, mouse, rat, and chicken.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
growth factor activity	IEA Inferred from Electronic Annotation more info
hormone activity	TAS Traceable Author Statement more info	PubMed
receptor binding	IPI Inferred from Physical Interaction more info	PubMed
transforming growth factor beta receptor binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
Mullerian duct regression	IDA Inferred from Direct Assay more info	PubMed
Mullerian duct regression	NAS Non-traceable Author Statement more info	PubMed
aging	IEA Inferred from Electronic Annotation more info
cell differentiation	IEA Inferred from Electronic Annotation more info
cell-cell signaling	TAS Traceable Author Statement more info	PubMed
gonadal mesoderm development	IEA Inferred from Electronic Annotation more info
positive regulation of NF-kappaB transcription factor activity	IEA Inferred from Electronic Annotation more info
positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
preantral ovarian follicle growth	IEA Inferred from Electronic Annotation more info
response to drug	IEA Inferred from Electronic Annotation more info
response to organic cyclic compound	IEA Inferred from Electronic Annotation more info
sex determination	TAS Traceable Author Statement more info	PubMed
sex differentiation	TAS Traceable Author Statement more info	PubMed
urogenital system development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
cytoplasm	IEA Inferred from Electronic Annotation more info
extracellular region	NAS Non-traceable Author Statement more info	PubMed
extracellular space	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: muellerian-inhibiting factor

Names: muellerian-inhibiting factor; anti-Muellerian hormone; Mullerian inhibiting factor; Mullerian inhibiting substance; muellerian-inhibiting substance

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012190.1 RefSeqGene

Range

5001..7960

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000479.3 → NP_000470.2 muellerian-inhibiting factor precursor

Status: REVIEWED

Source sequence(s)

AC005263, AI791949, BC049194

Consensus CDS

CCDS12085.1

UniProtKB/Swiss-Prot

P03971

Related

ENSP00000221496, OTTHUMP00000264272, ENST00000221496, OTTHUMT00000451276

Conserved Domains (2) summary

smart00204
Location:462 – 560
Blast Score: 288

TGFB; Transforming growth factor-beta (TGF-beta) family

pfam04709
Location:76 – 335
Blast Score: 601

AMH_N; Anti-Mullerian hormone, N terminal region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000019.9 Reference GRCh37.p10 Primary Assembly

Range

2249113..2252072

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000151.1 Alternate HuRef

Range

2020229..2023188

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018930.1 Alternate CHM1_1.0

Range

2176096..2179055

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01002714.1 (50835..53794)	None
genomic	AC005263.1	AAC25614.1
genomic	AMYH01009278.1 (21243..24202)	None
genomic	CH471139.2	EAW69397.1
genomic	K03474.1	AAA98805.1
mRNA	AI791949.1	None
mRNA	BC033218.1	None
mRNA	BC049194.1	AAH49194.1