DISEASES

Disease-gene associations mined from literature

Literature associating PES1 and Kohler's disease

PES1 [ENSP00000346725]

Pescadillo homolog; Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome. ECO:0000269|PubMed:16738141, ECO:0000269|PubMed:17189298,; Belongs to the pescadillo family.

Synonyms:  PES1,  PES1p,  hPES1,  B2RDF2,  B3KXD6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM