AMH anti-Mullerian hormone
Gene ID: 268, updated on 28-Oct-2024Gene type: protein coding
Also known as: MIF; MIS
- See all available tests in GTR for this gene
- Go to complete Gene record for AMH
- Go to Variation Viewer for AMH variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Persistent Mullerian duct syndrome | See labs |
Genomic context
- Location:
- 19p13.3
- Sequence:
- Chromosome: 19; NC_000019.10 (2249323..2252073)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for AMH variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- AMH database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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