DISEASES

Disease-gene associations mined from literature

Literature associating SMU1 and X-linked exudative vitreoretinopathy 2

SMU1 [ENSP00000380336]

Smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans); Auxiliary spliceosomal protein that regulates selection of alternative splice sites in a small set of target pre-mRNA species (Probable). Regulates alternative splicing of the HSPG2 pre-mRNA (By similarity). Required for normal mitotic spindle assembly and normal progress through mitosis. Required for normal accumulation of IK; Belongs to the WD repeat SMU1 family.

Synonyms:  SMU1,  SMU1p,  hSMU1,  A0MNN4,  B4E3L0 ...

Linkouts:  STRING  Pharos  UniProt