DISEASES

Disease-gene associations mined from literature

Literature associating KDM5C and Weaver syndrome

KDM5C [ENSP00000364550]

Jumonji/ARID domain-containing protein 1C; Histone demethylase that specifically demethylates 'Lys- 4' of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-9', H3 'Lys-27', H3 'Lys-36', H3 'Lys-79' or H4 'Lys-20'. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-4'. Participates in transcriptional repression of neuronal genes by recruiting histone deacetylases and REST at neuron-restrictive silencer elements. Represses the CLOCK-ARNTL/BMAL1 heterodimer- mediated transcriptional activation of the core clock component PER2 (By similarity); AT-rich interaction domain containing

Synonyms:  KDM5C,  KDM5Cp,  hKDM5C,  F8W7H7,  F8WDK1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM