DISEASES

Disease-gene associations mined from literature

Literature associating POLR2H and autosomal dominant centronuclear myopathy

POLR2H [ENSP00000415536]

DNA-directed RNA polymerases I, II, and III subunit RPABC3; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non- coding RNAs, and small RNAs, such as 5S rRNA and tRNAs, respectively. ; Belongs to the eukaryotic RPB8 RNA polymerase subunit family.

Synonyms:  POLR2H,  POLR2Hp,  hPOLR2H,  C9JJJ9,  C9JLU1 ...

Linkouts:  STRING  Pharos  UniProt