DISEASES

Disease-gene associations mined from literature

Literature associating SBDS and Johanson-Blizzard syndrome

SBDS [ENSP00000246868]

Shwachman-Bodian-Diamond syndrome protein; Required for the assembly of mature ribosomes and ribosome biogenesis. Together with EFL1, triggers the GTP- dependent release of EIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80S ribosome assembly and facilitating EIF6 recycling to the nucleus, where it is required for 60S rRNA processing and nuclear export. Required for normal levels of protein synthesis. May play a role in cellular stress resistance. May play a role in cellular response to DNA damage. May play a role in cell proliferation; Belongs to the SDO1/SBDS family.

Synonyms:  SBDS,  F8WE72,  Q9Y3A5,  CGI-97,  F8WE72p ...

Linkouts:  STRING  Pharos  UniProt  OMIM