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FLASH GENE
Symbol AMH contributors: mct/pgu - updated : 28-01-2012
HGNC name anti-Mullerian hormone
HGNC id 464
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