DISEASES

Disease-gene associations mined from literature

Literature associating HDAC4 and brachydactyly

HDAC4 [ENSP00000264606]

Histone deacetylase 4; Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Involved in muscle maturation via its interaction with the myocyte enhancer factors such as MEF2A, MEF2C and MEF2D. Involved in the MTA1-mediated epigenetic regulation of ESR1 expression in breast cancer. Deacetylates HSPA1A and HSPA1B at 'Lys-77' leading to their preferential binding to co-chaperone STUB1.

Synonyms:  HDAC4,  HDAC4p,  hHDAC4,  C9J0X4,  C9J481 ...

Linkouts:  STRING  Pharos  UniProt  OMIM