DISEASES

Disease-gene associations mined from literature

Literature associating SMU1 and X-linked exudative vitreoretinopathy 2

SMU1 [ENSP00000380336]

WD40 repeat-containing protein SMU1, N-terminally processed; Involved in pre-mRNA splicing as a component of the spliceosome . Regulates alternative splicing of the HSPG2 pre-mRNA (By similarity). Required for normal accumulation of IK . Required for normal mitotic spindle assembly and normal progress through mitosis (By similarity). ; Belongs to the WD repeat SMU1 family.

Synonyms:  SMU1,  SMU1p,  hSMU1,  A0MNN4,  Q2TAY7 ...

Linkouts:  STRING  Pharos  UniProt