DISEASES

Disease-gene associations mined from literature

Literature associating USB1 and Dubowitz syndrome

USB1 [ENSP00000219281]

U6 snRNA phosphodiesterase; Phosphodiesterase responsible for the U6 snRNA 3' end processing. Acts as an exoribonuclease (RNase) responsible for trimming the poly(U) tract of the last nucleotides in the pre-U6 snRNA molecule, leading to the formation of mature U6 snRNA 3' end-terminated with a 2',3'-cyclic phosphate; Belongs to the 2H phosphoesterase superfamily. USB1 family.

Synonyms:  USB1,  USB1p,  hUSB1,  A0A024R6V6,  B4DDJ8 ...

Linkouts:  STRING  Pharos  UniProt