GENE NAME | MAML1 |
CHROMOSOME | 5 |
ENSEMBL ID | ENSG00000161021 |
ENTREZ ID | 9794 |
UNIPROT ACCESSION NUMBER | Q92585 |
GO MOLECULAR FUNCTION | |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | R-HSA-350054; R-HSA-5663202; R-HSA-74160; R-HSA-9013508; hsa04330; R-HSA-8878159; R-HSA-162582; R-HSA-1980143; R-HSA-1912408; hsa04658; R-HSA-2197563; hsa05165; R-HSA-1266738; R-HSA-212436; R-HSA-9013694; R-HSA-2122947; R-HSA-9013695; R-HSA-1980145; R-HSA-8941856; R-HSA-1643685; R-HSA-2644602; R-HSA-2644606; R-HSA-210744; R-HSA-2644603; R-HSA-2894858; R-HSA-186712; R-HSA-73857; R-HSA-157118; R-HSA-1912422; R-HSA-2894862; R-HSA-9012852 |
3 combinations linked to MAML1 | OLI343; OLI600; OLI602 |
3 variants linked to MAML1 | MAML1:c.1893G>A, p.Gln631=; MAML1:c.1374C>T, p.Asp458=; MAML1:c.1157G>T, p.Gly386Val |
2 diseases linked to MAML1 | Disorder of sex development; 46,XY disorder of sex development |