DISEASES

Disease-gene associations mined from literature

Literature associating RPP30 and Omenn syndrome

RPP30 [ENSP00000389182]

Ribonuclease P protein subunit p30; Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5'-ends . Also a component of the MRP ribonuclease complex, which cleaves pre-rRNA sequences . ECO:0000269|PubMed:30454648, ECO:0000269|PubMed:9037013,

Synonyms:  RPP30,  RPP30p,  hRPP30,  P78346,  Q5VU10 ...

Linkouts:  STRING  Pharos  UniProt  OMIM