DISEASES

Disease-gene associations mined from literature

Literature associating WHSC1L1 and Weaver syndrome

WHSC1L1 [ENSP00000313983]

WHSC1-like 1 isoform 9 with methyltransferase activity to lysine; Histone methyltransferase. Preferentially methylates 'Lys-4' and 'Lys-27' of histone H3. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation, while 'Lys-27' is a mark for transcriptional repression.

Synonyms:  WHSC1L1,  WHSC1L1p,  hWHSC1L1,  E9PKA2,  E9PQ95 ...

Linkouts:  STRING  Pharos  UniProt  OMIM