INTS8 Chromosome 8
Integrator complex subunit 8
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What This Gene Does
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]
Gene Info
Gene Group
Integrator complex
Locus Type
gene with protein product
Location
8q22.1
Ensembl
ENSG00000164941
Associated Conditions (1)
Neurodevelopmental disorder with cerebellar hypoplasia and spasticity
Key Variants
RS1192451883
Likely pathogenic
Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, Neurodevelopmental disorder with cerebellar hypoplasia and spasticity
Health Risk
RS1586479593
Pathogenic
Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, Neurodevelopmental disorder with cerebellar hypoplasia and spasticity
Health Risk
RS1586540615
Pathogenic
Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, Neurodevelopmental disorder with cerebellar hypoplasia and spasticity
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1192451883 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, Neurodevelopmental disorder with cerebellar hypoplasia and spasticity |
| RS1586479593 | Health Risk | Pathogenic | Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, Neurodevelopmental disorder with cerebellar hypoplasia and spasticity |
| RS1586540615 | Health Risk | Pathogenic | Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, Neurodevelopmental disorder with cerebellar hypoplasia and spasticity |