DISEASES

Disease-gene associations mined from literature

Literature associating SNRPC and extraskeletal myxoid chondrosarcoma

SNRPC [ENSP00000244520]

Small nuclear ribonucleoprotein polypeptide C; Component of the spliceosomal U1 snRNP, which is essential for recognition of the pre-mRNA 5' splice-site and the subsequent assembly of the spliceosome. SNRPC/U1-C is directly involved in initial 5' splice-site recognition for both constitutive and regulated alternative splicing. The interaction with the 5' splice-site seems to precede base-pairing between the pre-mRNA and the U1 snRNA. Stimulates commitment or early (E) complex formation by stabilizing the base pairing of the 5' end of the U1 snRNA and the 5' splice-site region; Belongs to the U1 small nuclear ribonucleoprotein C family.

Synonyms:  SNRPC,  P09234,  Q5TAL2,  Q5TAL4,  P09234p ...

Linkouts:  STRING  Pharos  UniProt  OMIM