DISEASES

Disease-gene associations mined from literature

Literature associating SNU13 and microcephalic osteodysplastic primordial dwarfism type I

SNU13 [ENSP00000383949]

NHP2-like protein 1, N-terminally processed; Involved in pre-mRNA splicing as component of the spliceosome . Binds to the 5'-stem-loop of U4 snRNA and thereby contributes to spliceosome assembly . The protein undergoes a conformational change upon RNA-binding .

Synonyms:  SNU13,  SNU13p,  hSNU13,  A0A3B3IRU2,  A0A3B3ISH1 ...

Linkouts:  STRING  Pharos  UniProt