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FLASH GENE
Symbol AMH contributors: mct/pgu - updated : 28-01-2015
HGNC name anti-Mullerian hormone
HGNC id 464
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