Disease-gene associations mined from literature

Literature associating PHF12 and rigid spine muscular dystrophy 1

PHF12 [ENSP00000329933]

PHD finger protein 12; Acts as a transcriptional repressor. Involved in recruitment of functional SIN3A complexes to DNA. Represses transcription at least in part through the activity of an associated histone deacetylase (HDAC). May also repress transcription in a SIN3A-independent manner through recruitment of functional AES complexes to DNA.

Synonyms:  PHF12,  PHF12p,  hPHF12,  C9J9G2,  J3QQU3 ...

Linkouts:  STRING  Pharos  UniProt