DISEASES

Disease-gene associations mined from literature

Literature associating JMJD2C and Weaver syndrome

JMJD2C [ENSP00000370710]

JmjC domain-containing histone demethylation protein 3C; Histone demethylase that specifically demethylates 'Lys- 9' and 'Lys-36' residues of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-4', H3 'Lys-27' nor H4 'Lys-20'. Demethylates trimethylated H3 'Lys-9' and H3 'Lys-36' residue, while it has no activity on mono- and dimethylated residues. Demethylation of Lys residue generates formaldehyde and succinate.

Synonyms:  KDM4C,  KDM4Cp,  hKDM4C,  B0QZ60,  C9J879 ...

Linkouts:  STRING  Pharos  UniProt  OMIM