Anti-Mullerian Hormone

Alternative Names

  • AMH
  • Mullerian-Inhibiting Substance
  • MIS
  • Mullerian-Inhibiting Factor
  • MIF
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OMIM Number

600957

NCBI Gene ID

268

Uniprot ID

P03971

Length

2,751 bases

No. of Exons

5

Protein Name

Muellerian-inhibiting factor

Molecular Mass

59195 Da

Amino Acid Count

560

Genomic Location

chr19:2,249,323-2,252,073

Gene Map Locus
19p13.3

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. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000479.5:c.259G>AUnited Arab EmiratesNC_000019.10:g.2249591G>AUncertain SignificancePersistent Mullerian Duct Syndrome, Types I and IING_012190.1:g.5478G>A; NM_000479.5:c.259G>A; NP_000470.3:p.Val87Met906101382
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