Version: 8.0.0Date: Tue Jan 28 2025
Gene
AMH
- Species
- Homo sapiens
- Symbol
- AMH
- Name
- anti-Mullerian hormone
- Synonyms
- anti-Muellerian hormone
- MIF
- Biotype
- protein coding gene
- Automated Description
- Enables type II transforming growth factor beta receptor binding activity. Involved in several processes, including Mullerian duct regression; anti-Mullerian hormone receptor signaling pathway; and positive regulation of SMAD protein signal transduction. Located in extracellular space. Implicated in disorder of sexual development; ovarian carcinoma; and persistent Mullerian duct syndrome. Biomarker of breast cancer; granulosa cell tumor; obesity; and polycystic ovary syndrome.
- RGD Description
- 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR15009
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
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Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr19:2249309...2252073 + (2.76 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Must provide at least one subject
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.