DISEASES

Disease-gene associations mined from literature

Literature associating IK and Coffin-Siris syndrome 3

IK [ENSP00000396301]

Protein Red; Involved in pre-mRNA splicing as a component of the spliceosome . Auxiliary spliceosomal protein that regulates selection of alternative splice sites in a small set of target pre-mRNA species (Probable). Required for normal mitotic cell cycle progression . Recruits MAD1L1 and MAD2L1 to kinetochores, and is required to trigger the spindle assembly checkpoint . Required for normal accumulation of SMU1 . ECO:0000269|PubMed:24252166, ECO:0000269|PubMed:24945353,

Synonyms:  IK,  A0A0C4DGW5,  D6RAH1,  D6RAY9,  D6RCQ4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM