DISEASES

Disease-gene associations mined from literature

Literature associating KMT2B and generalized dystonia

KMT2B [ENSP00000398837]

Histone-lysine N-methyltransferase 2B; Histone methyltransferase that methylates 'Lys-4' of histone H3 . H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation . Plays a central role in beta-globin locus transcription regulation by being recruited by NFE2 . Plays an important role in controlling bulk H3K4me during oocyte growth and preimplantation development (By similarity). Required during the transcriptionally active period of oocyte growth for the establishment and/or maintenance of bulk H3K4 trimethylation (H3K4me3), global transcriptional silencing that preceeds resumption of meiosis, oocyte survival and normal zygotic genome activation (By similarity).

Synonyms:  KMT2B,  KMT2Bp,  hKMT2B,  Q9UMN6,  Q9UMN6p ...

Linkouts:  STRING  Pharos  UniProt