DISEASES

Disease-gene associations mined from literature

Literature associating CPSF4 and epidermolysis bullosa simplex Dowling-Meara type

CPSF4 [ENSP00000292476]

Cleavage and polyadenylation specificity factor subunit 4; Component of the cleavage and polyadenylation specificity factor (CPSF) complex that play a key role in pre-mRNA 3'-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and other factors to bring about cleavage and poly(A) addition. CPSF4 binds RNA polymers with a preference for poly(U).

Synonyms:  CPSF4,  CPSF4p,  hCPSF4,  B7Z7B0,  C9JEV9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM