DISEASES

Disease-gene associations mined from literature

Literature associating DPY30 and rigid spine muscular dystrophy 1

DPY30 [ENSP00000345837]

Dpy-30 homolog (C. elegans); As part of the MLL1/MLL complex, involved in the methylation of histone H3 at 'Lys-4', particularly trimethylation. Histone H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. May play some role in histone H3 acetylation. In a teratocarcinoma cell, plays a crucial role in retinoic acid-induced differentiation along the neural lineage, regulating gene induction and H3 'Lys-4' methylation at key developmental loci. May also play an indirect or direct role in endosomal transport; Belongs to the dpy-30 family.

Synonyms:  DPY30,  DPY30p,  hDPY30,  Q9C005,  Q9C005p ...

Linkouts:  STRING  Pharos  UniProt