INTS8

Chr 8AR

integrator complex subunit 8

Also known as: C8orf52, INT8, NEDCHS

This gene encodes a subunit of the Integrator complex which is involved in the cleavage of small nuclear RNAs U1 and U2 within the nucleus. The encoded protein associates with RNA polymerase II and is recruited to the U1 and U2 small nuclear RNA genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Neurodevelopmental disorder with cerebellar hypoplasia and spasticityMIM #618572
AR
0
Active trials
Pubs (1 yr)
P/LP submissions
P/LP missense
LOEUF
LOF
Mechanism· predicted
Some data sources returned errors (1)

gnomad: TimeoutError: The operation was aborted due to timeout

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

INTS8 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →