DISEASES

Disease-gene associations mined from literature

Literature associating PRDM8 and Lafora disease

PRDM8 [ENSP00000339764]

PR domain zinc finger protein 8; Probable histone methyltransferase, preferentially acting on 'Lys-9' of histone H3 (By similarity). Involved in the control of steroidogenesis through transcriptional repression of steroidogenesis marker genes such as CYP17A1 and LHCGR (By similarity). Forms with BHLHE22 a transcriptional repressor complex controlling genes involved in neural development and neuronal differentiation (By similarity). In the retina, it is required for rod bipolar and type 2 OFF-cone bipolar cell survival (By similarity); Belongs to the class V-like SAM-binding methyltransferase superfamily.

Synonyms:  PRDM8,  PRDM8p,  hPRDM8,  A0A024RDC4,  E9PEH0 ...

Linkouts:  STRING  Pharos  UniProt