DISEASES

Disease-gene associations mined from literature

Literature associating INTS8 and microcephalic osteodysplastic primordial dwarfism type I

INTS8 [ENSP00000430338]

Integrator complex subunit 8; Component of the Integrator 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.

Synonyms:  INTS8,  INTS8p,  hINTS8,  E5RG48,  E5RH10 ...

Linkouts:  STRING  Pharos  UniProt  OMIM