DISEASES

Disease-gene associations mined from literature

Literature associating PRDM9 and Potocki-Lupski syndrome

PRDM9 [ENSP00000296682]

Histone-lysine N-methyltransferase PRDM9; Histone methyltransferase that specifically trimethylates 'Lys-4' of histone H3 during meiotic prophase and is essential for proper meiotic progression. Does not have the ability to mono- and dimethylate 'Lys-4' of histone H3. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. Plays a central role in the transcriptional activation of genes during early meiotic prophase (By similarity); Lysine methyltransferases

Synonyms:  PRDM9,  PRDM9p,  hPRDM9,  D2E453,  D2KI85 ...

Linkouts:  STRING  Pharos  UniProt  OMIM