Details for Gene ALX1

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 OLI713; OLI744; OLI729; 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

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