GTF3C3 Chromosome 2
General transcription factor IIIC subunit 3
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What This Gene Does
The protein encoded by this gene is part of the TFIIIC2 complex, which binds to the promoters of small nuclear and cytoplasmic RNA genes in order to recruit RNA polymerase III. The TFIIIC2 complex is composed of six subunits. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Gene Info
Gene Group
"Tetratricopeptide repeat domain containing|General transcription factor IIIC complex subunits"
Locus Type
gene with protein product
Location
2q33.1
Ensembl
ENSG00000119041
Associated Conditions (4)
Chromosome 2q32-q33 deletion syndrome
Neurodevelopmental disorder with dysmorphic facies
brain anomalies
and seizures
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2469013541 | Health Risk | Likely pathogenic | Chromosome 2q32-q33 deletion syndrome, Neurodevelopmental disorder with dysmorphic facies, brain anomalies |