The pwp1 gene encodes a WD repeat-containing protein that is a component of the small subunit processome, directly involved in the endonucleolytic cleavage of 18S rRNA precursor and ribosomal RNA proce...[+]

The pwp1 gene encodes a WD repeat-containing protein that is a component of the small subunit processome, directly involved in the endonucleolytic cleavage of 18S rRNA precursor and ribosomal RNA processing through its association with the U3 snoRNP complex. This protein localizes to the nucleolus. During development, it is expressed in the brain, eye, cranial ganglia, and branchial arches. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD