Details for Gene BAZ1B

GENE NAME BAZ1B
CHROMOSOME 7
ENSEMBL ID ENSG00000009954
ENTREZ ID 9031
UNIPROT ACCESSION NUMBER Q9UIG0
GO MOLECULAR FUNCTION protein binding; transferase activity; kinase activity; ATP binding; nucleotide binding; histone binding; protein tyrosine kinase activity; non-membrane spanning protein tyrosine kinase activity; metal ion binding
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-5250913; R-HSA-212165; R-HSA-5250924; R-HSA-5250924; R-HSA-212165; R-HSA-5250913; R-HSA-73894; R-HSA-5693532; R-HSA-5693565; R-HSA-5693606; R-HSA-74160; R-HSA-5693565; R-HSA-5693606; R-HSA-5693532; R-HSA-73894; R-HSA-74160
2 combinations linked to BAZ1B OLI336; OLI340
2 variants linked to BAZ1B BAZ1B:c.3804_3821dupGGAGGAGGAGGAAGAAGA, p.Glu1268_Glu1273dup; BAZ1B:c.1364G>A, p.Arg455Gln
1 disease linked to BAZ1B Isolated Klippel-Feil syndrome

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