DISEASES

Disease-gene associations mined from literature

Literature associating RNPC3 and microcephalic osteodysplastic primordial dwarfism type I

RNPC3 [ENSP00000432886]

U11/U12 small nuclear ribonucleoprotein 65 kDa protein; Participates in pre-mRNA U12-dependent splicing, performed by the minor spliceosome which removes U12-type introns. U12-type introns comprises less than 1% of all non-coding sequences. Binds to the 3'-stem-loop of m(7)G-capped U12 snRNA; RNA binding motif containing

Synonyms:  RNPC3,  RNPC3p,  hRNPC3,  E9PPV2,  Q96LT9 ...

Linkouts:  STRING  Pharos  UniProt