DISEASES

Disease-gene associations mined from literature

Literature associating WDR74 and autosomal dominant Robinow syndrome 1

WDR74 [ENSP00000432119]

WD repeat-containing protein 74; Regulatory protein of the MTREX-exosome complex involved in the synthesis of the 60S ribosomal subunit . Participates in an early cleavage of the pre-rRNA processing pathway in cooperation with NVL . Required for blastocyst formation, is necessary for RNA transcription, processing and/or stability during preimplantation development (By similarity).

Synonyms:  WDR74,  WDR74p,  hWDR74,  E9PS41,  F5GYL6 ...

Linkouts:  STRING  Pharos  UniProt