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 |