DISEASES

Disease-gene associations mined from literature

Literature associating CPSF2 and Sveinsson chorioretinal atrophy

CPSF2 [ENSP00000298875]

Cleavage and polyadenylation specificity factor subunit 2; 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. Involved in the histone 3' end pre-mRNA processing. ; Belongs to the metallo-beta-lactamase superfamily. RNA- metabolizing metallo-beta-lactamase-like family. CPSF2/YSH1 subfamily.

Synonyms:  CPSF2,  CPSF2p,  hCPSF2,  A0A024R6H0,  G3V3T7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM