AMH
entrez
268
canonical
uniprot
P03971
canonical
ensembl
ENSG00000104899
resolver
ensp
ENSP00000221496
resolver
enst
ENST00000221496
resolver
genesymbol
AMH
resolver
genesymbol_syn
MIF
resolver
hgnc
HGNC:464
resolver
uniprot
O75246
resolver
uniprot
Q6GTN3
resolver
uniprot_entry
AMH_HUMAN
resolver
uniprot_sec
O75246
resolver
uniprot_sec
Q6GTN3
resolver
amino_acid_sequence
MRDLPLTSLALVLSALGALLGTEALRAEEPAVGTSGLIFREDLDWPPGSPQEPLCLVALGGDSNGSSSPLRVVGALSAYEQAFLGAVQRARWGPRDLATFGVCNTGDRQAALPSLRRLGAWLRDPGGQRLVVLHLEEVTWEPTPSLRFQEPPPGGAGPPELALLVLYPGPGPEVTVTRAGLPGAQSLCPSRDTRYLVLAVDRPAGAWRGSGLALTLQPRGEDSRLSTARLQALLFGDDHRCFTRMTPALLLLPRSEPAPLPAHGQLDTVPFPPPRPSAELEESPPSADPFLETLTRLVRALRVPPARASAPRLALDPDALAGFPQGLVNLSDPAALERLLDGEEPLLLLLRPTAATTGDPAPLHDPTSAPWATALARRVAAELQAAAAELRSLPGLPPATAPLLARLLALCPGGPGGLGDPLRALLLLKALQGLRVEWRGRDPRGPGRAQRSAGATAADGPCALRELSVDLRAERSVLIPETYQANNCQGVCGWPQSDRNPRYGNHVVLLLKMQVRGAALARPPCCVPTAYAGKLLISLSEERISAHHVPNMVATECGCR
uniprot
proteins
disease_involvement
DISEASE: Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]: A form of male pseudohermaphroditism characterized by a failure of Muellerian duct regression in otherwise normal males. {ECO:0000269|PubMed:8162013, ECO:0000269|PubMed:8872466}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: The anti-Muellerian hormone (AMH) plays an important role in several reproductive functions (PubMed:14742691, PubMed:34155118, PubMed:3754790, PubMed:8469238). Anti-Muellerian hormone binds and activates AMHR2, its specific type-II receptor, that heterodimerizes with type-I receptors (ACVR1 and BMPR1A) to regulate target gene expression through downstream SMAD protein signal transduction (PubMed:20861221, PubMed:34155118). Produced and secreted by Sertoli cells of the male fetus, anti-Muellerian hormone induces Muellerian duct regression during male fetal sexual differentiation (PubMed:34155118, PubMed:3754790, PubMed:8469238). In female, it is produced by granulosa cells of the preantral and small antral follicles and acts as a negative regulator of the primordial to primary follicle transition and decreases FSH sensitivity of growing follicles (PubMed:14742691). Also plays a role in Leydig cell differentiation and function (By similarity). {ECO:0000250|UniProtKB:P27106, ECO:0000269|PubMed:14742691, ECO:0000269|PubMed:20861221, ECO:0000269|PubMed:34155118, ECO:0000269|PubMed:3754790, ECO:0000269|PubMed:8469238}.
uniprot
proteins
mass_dalton
59195
uniprot
proteins
mutagenesis
MUTAGEN 55; /note="C->S: Reduced AMH prodomain dimerization; when associated with S-241. Impaired AMH prodomain dimerization; when associated with S-241 and S-411."; /evidence="ECO:0000269|PubMed:39805014"; MUTAGEN 103; /note="C->S: Loss of signaling activity."; /evidence="ECO:0000269|PubMed:39805014"; MUTAGEN 188; /note="C->S: Loss of signaling activity."; /evidence="ECO:0000269|PubMed:39805014"; MUTAGEN 241; /note="C->S: Reduced AMH prodomain dimerization; when associated with S-55. Impaired AMH prodomain dimerization; when associated with S-55 and S-411."; /evidence="ECO:0000269|PubMed:39805014"; MUTAGEN 411; /note="C->S: Impaired AMH prodomain dimerization; when associated with S-55 and S-241."; /evidence="ECO:0000269|PubMed:39805014"; MUTAGEN 472; /note="R->D: Little effect on AMH signaling."; /evidence="ECO:0000269|PubMed:34155118"; MUTAGEN 478; /note="L->A: Abolishes AMH signaling. Does not induce regression of the Muellerian duct."; /evidence="ECO:0000269|PubMed:34155118"; MUTAGEN 481; /note="E->A: Shows a slight decrease in AMH signaling. Affects slightly Mullerian duct regression."; /evidence="ECO:0000269|PubMed:34155118"; MUTAGEN 481; /note="E->R,Y: Decreases AMH signaling."; /evidence="ECO:0000269|PubMed:34155118"; MUTAGEN 484; /note="Q->S: Little effect on AMH signaling."; /evidence="ECO:0000269|PubMed:34155118"; MUTAGEN 534; /note="K->A: Abolishes AMH signaling."; /evidence="ECO:0000269|PubMed:34155118"; MUTAGEN 535; /note="L->Y: Little effect on AMH signaling."; /evidence="ECO:0000269|PubMed:34155118"; MUTAGEN 546; /note="A->M: Abolishes AMH signaling."; /evidence="ECO:0000269|PubMed:34155118
uniprot
proteins
post_translational_modification
PTM: The preproprotein is proteolytically processed to generate the AMH prodomain and the anti-Muellerian hormone (PubMed:20861221, PubMed:2974034, PubMed:8469238). Both homodimerize covalently, and homodimers associate to form a non-covalent heterotetrameric complex (PubMed:20861221, PubMed:2974034, PubMed:8469238). {ECO:0000269|PubMed:20861221, ECO:0000269|PubMed:2974034, ECO:0000269|PubMed:8469238}.
uniprot
proteins
protein_family
TGF-beta family
uniprot
proteins
pubmed
11779604
uniprot
proteins
pubmed
14742691
uniprot
proteins
pubmed
1483695
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
20861221
uniprot
proteins
pubmed
2974034
uniprot
proteins
pubmed
34155118
uniprot
proteins
pubmed
3754790
uniprot
proteins
pubmed
39805014
uniprot
proteins
pubmed
8162013
uniprot
proteins
pubmed
8469238
uniprot
proteins
pubmed
8872466
uniprot
proteins
sequence_length
560
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:2974034, ECO:0000269|PubMed:3754790}.
uniprot
proteins