Details for Gene AMH

GENE NAME AMH
CHROMOSOME 19
ENSEMBL ID None
ENTREZ ID ENSG00000104899
UNIPROT ACCESSION NUMBER P03971
GO MOLECULAR FUNCTION ['growth factor activity', 'hormone activity', 'protein binding', 'type II transforming growth factor beta receptor binding', 'signaling receptor binding']
ESSENTIAL IN MOUSE Non-essential
PATHWAYS hsa04024; hsa04060; hsa04350; hsa04390; R-HSA-1266738; R-HSA-162582; R-HSA-201451; R-HSA-9006936; R-HSA-9690406
11 combinations linked to AMH OLI1390; OLI1138; OLI1137; OLI1136; OLI1424; OLI1401; OLI1410; OLI1569; OLI1560; OLI1580; OLI668
11 variants linked to AMH AMH:c.428C>T, p.Thr143Ile; AMH:c.974A>G, p.Gln325Arg; AMH:c.451C>T, p.Pro151Ser; AMH:c.236A>G, p.Tyr79Cys; AMH:c.136C>G, p.Pro46Ala; AMH:c.1213G>C, p.Ala405Pro; AMH:c.295A>T, p.Thr99Ser; AMH:c.1666G>A, p.Glu556Lys; AMH:c.991T>C, p.Ser331Pro; AMH:c.1556C>T, p.Ala519Val; AMH:c.553C>G, p.Gln185Glu
5 diseases linked to AMH 46,XY disorder of sex development; Mayer-Rokitansky-Küster-Hauser syndrome; Syndrome with 46,XY disorder of sex development; Hypogonadotropic hypogonadism with absent puberty phenotype; Hypogonadotropic hypogonadism with partial puberty phenotype
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