DISEASES

Disease-gene associations mined from literature

Literature associating INTS11 and Galloway-Mowat syndrome

INTS11 [ENSP00000445001]

Integrator complex subunit 11; Catalytic component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes. Mediates the snRNAs 3' cleavage. Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex ; Belongs to the metallo-beta-lactamase superfamily. RNA- metabolizing metallo-beta-lactamase-like family. INTS11 subfamily.

Synonyms:  INTS11,  INTS11p,  hINTS11,  A0A024R073,  A0A024R0F2 ...

Linkouts:  STRING  Pharos  UniProt