DISEASES

Disease-gene associations mined from literature

Literature associating PDCD11 and autosomal dominant Robinow syndrome 1

PDCD11 [ENSP00000358812]

Protein RRP5 homolog; Essential for the generation of mature 18S rRNA, specifically necessary for cleavages at sites A0, 1 and 2 of the 47S precursor. Directly interacts with U3 snoRNA.

Synonyms:  PDCD11,  PDCD11p,  hPDCD11,  A0A3B3IUD7,  Q14690 ...

Linkouts:  STRING  Pharos  UniProt  OMIM