DISEASES

Disease-gene associations mined from literature

Literature associating ASH2L and Kabuki syndrome

ASH2L [ENSP00000340896]

Set1/Ash2 histone methyltransferase complex subunit ASH2; Component of the Set1/Ash2 histone methyltransferase (HMT) complex, a complex that specifically methylates 'Lys-4' of histone H3, but not if the neighboring 'Lys-9' residue is already methylated. As part of the MLL1/MLL complex it is involved in methylation and dimethylation at 'Lys-4' of histone H3. May function as a transcriptional regulator. May play a role in hematopoiesis; PHD finger proteins

Synonyms:  ASH2L,  ASH2Lp,  hASH2L,  E5RFH5,  E5RHM1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM