DISEASES

Disease-gene associations mined from literature

Literature associating RPL23A and inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2

RPL23A [ENSP00000389103]

60S ribosomal protein L23a; Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. Binds a specific region on the 26S rRNA. May promote p53/TP53 degradation possibly through the stimulation of MDM2-mediated TP53 polyubiquitination ; Belongs to the universal ribosomal protein uL23 family.

Synonyms:  RPL23A,  RPL23Ap,  hRPL23A,  A8MUS3,  H7BY10 ...

Linkouts:  STRING  Pharos  UniProt  OMIM