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FLASH GENE

Symbol

AMH

contributors: mct/pgu - updated : 28-01-2015

HGNC name	anti-Mullerian hormone
HGNC id	464

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000479 5 - 2065 NP_000470 - 560 - 2005 16030171

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Reproductive female system uterus         female system ovary     highly Homo sapiens   male system prostate

cells

System Cell Pubmed Species Stage Rna symbol Reproductive granulosa cell Homo sapiens Reproductive Sertoli 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)
	GDF9 and BMP15 and FSH Regulate AMH expression via modulation of H3K27AC in granulosa cells

cell & other

REGULATION

induced by

BMP6, in granulosa cells

ASSOCIATED DISORDERS

corresponding disease(s)

PMDS1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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
	System Type Disorder Pubmed reproduction pregnancy   potential therapeutics target to manipulate the pool size and female reproduction

ANIMAL & CELL MODELS