Disease-gene associations mined from literature

Literature associating SPSB1 and congenital muscular dystrophy-dystroglycanopathy A7

SPSB1 [ENSP00000330221]

splA/ryanodine receptor domain and SOCS box containing 1; Probable substrate recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins; Belongs to the SPSB family.

Synonyms:  SPSB1,  SPSB1p,  hSPSB1,  A0A024R4G8,  A2A276 ...

Linkouts:  STRING  Pharos  UniProt  OMIM