DISEASES

Disease-gene associations mined from literature

Literature associating RNPC3 and microcephalic osteodysplastic primordial dwarfism type I

RNPC3 [ENSP00000432886]

RNA-binding region-containing protein 3; 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. ECO:0000269|PubMed:19447915, ECO:0000269|PubMed:24480542,

Synonyms:  RNPC3,  RNPC3p,  hRNPC3,  E9PPV2,  H0YE07 ...

Linkouts:  STRING  Pharos  UniProt