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Gene : AMH Homo sapiens

Name  ? anti-Mullerian hormone Cytological Location  19p13.3
Brief Description  anti-Mullerian hormone
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]
  • synonyms:
  • MIS,
  • NM_000479,
  • HGNC:464,
  • K03474,
  • MIS,
  • OTTHUMG00000180415,
  • MIF,
  • AMH,
  • uc002lvh.3
  • identifiers:
  • 268,
  • ENSG00000104899,
  • AMH

Genome feature

Region: gene ? Length: 2795  
Location: 19:2249279-2252073 Cyto location: 19p13.3


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Disease

1 Diseases

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2011 SN Ps

5 Cross References

19 Data Sets

3 Homologues

0 Located Features

90 Rna Seq Results