GENE NAME | ALX1 |
CHROMOSOME | 12 |
ENSEMBL ID | ENSG00000180318 |
ENTREZ ID | 8092 |
UNIPROT ACCESSION NUMBER | Q15699 |
GO MOLECULAR FUNCTION | protein binding; DNA binding; DNA-binding transcription activator activity, RNA polymerase II-specific; sequence-specific double-stranded DNA binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | |
4 combinations linked to ALX1 | OLI729; OLI744; OLI713; OLI718 |
3 variants linked to ALX1 | ALX1:c.182A>G, p.His61Arg; ALX1:c.191G>T, p.Arg64Leu; ALX1:c.190C>T, p.Arg64Cys |
1 disease linked to ALX1 | Isolated anencephaly |