Details for Gene KAT6B

GENE NAME KAT6B
CHROMOSOME 10
ENSEMBL ID None
ENTREZ ID ENSG00000156650
UNIPROT ACCESSION NUMBER Q8WYB5
GO MOLECULAR FUNCTION ['transcription coregulator activity', 'DNA binding', 'RNA polymerase II-specific DNA-binding transcription factor binding', 'acetyltransferase activity', 'protein binding', 'metal ion binding', 'histone binding', 'histone acetyltransferase activity']
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-3214847; R-HSA-3247509; R-HSA-4839726
2 combinations linked to KAT6B OLI1565; OLI1561
2 variants linked to KAT6B KAT6B:c.4822A>G, p.Asn1608Asp; KAT6B:c.1754C>T, p.Ala585Val
1 disease linked to KAT6B Syndrome with 46,XY disorder of sex development

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