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FLASH GENE
Symbol AMH contributors: mct/pgu - updated : 28-01-2012
HGNC name anti-Mullerian hormone
HGNC id 464
Corresponding disease
PMDS1 persistent Müllerian duct syndrome, type I and II
Location 19p13.3      Physical location : 2.249.112 - 2.252.072
Synonym name
  • Mullerian inhibiting factor
  • Muellerian-inhibiting substance
  • Synonym symbol(s) MIF, MIS
    DNA
    TYPE functioning gene
    STRUCTURE 2.96 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 2065 - 560 - 2005 16030171
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivefemale systemuterus   
     female systemovary  highly Homo sapiens
     male systemprostate   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductivegranulosa cell Homo sapiens
    ReproductiveSertoli cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, neonatal
    Text testis
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • dimeric glycoprotein hormone
  • conjugated GlycoP
    HOMOLOGY
    Homologene
    FAMILY
  • TGF-beta family
  • CATEGORY signaling hormone
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • preventing the development of the uterus and fallopian tubes in male embryo
  • AMH expression is associated with granulosa cell mitosis
  • regulator and marker of ovarian function
  • first hormone/protein shown to have an inhibitory action on primordial follicle assembly
  • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling hormonal
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with CTNNB1 (mediates AMH signaling for Müllerian duct regression during male sexual differentiation)
  • cell & other
    REGULATION
    induced by BMP6, in granulosa cells
    ASSOCIATED DISORDERS
    corresponding disease(s) PMDS1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in primordial and transitional follicles in ovaries from anovulatory women with polycystic ovaries
    constitutional     --over  
    high AMH levels in women with polycystic ovary syndrome may contribute to their aberrant follicle selection
    constitutional     --low  
    lower in the SRY-negative XX testes than in XY testes
    constitutional     --over  
    in oligomenorrheic girls, suggest increased antral follicle number similar to that observed in girls with PCOS
    Susceptibility
    Variant & Polymorphism other Ile49Ser polymorphism contributes to the severity of the
    polycystic ovary syndrome (PCOS) phenotype
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    reproductionpregnancy 
    potential therapeutics target to manipulate the pool size and female reproduction
    ANIMAL & CELL MODELS