INTS8
Developmental stage
Highly expressed in the brain in the ventricular and subventricular zones, caudal and lateral ganglionic eminences and cerebellar primordium at 16-21 postconceptional week.
Function
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.
Involvement in disease
Neurodevelopmental disorder with cerebellar hypoplasia and spasticity
NEDCHS
An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, profound intellectual disability, seizures, absent speech, spasticity, facial and limb dysmorphism, and subtle structural brain abnormalities including cerebellar hypoplasia.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the Integrator subunit 8 family.
Cellular localization
- Nucleus
Alternative names
C8orf52, INTS8, Integrator complex subunit 8, Int8, Protein kaonashi-1