GTF3C1 Chromosome 16
General transcription factor IIIC subunit 1
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What This Gene Does
Enables RNA polymerase III general transcription initiation factor activity. Predicted to be involved in 5S class rRNA transcription by RNA polymerase III and transcription initiation at RNA polymerase III promoter. Located in nucleolus and nucleoplasm. Part of transcription factor TFIIIC complex. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
General transcription factor IIIC complex subunits
Locus Type
gene with protein product
Location
16p12.1
Ensembl
ENSG00000077235
Associated Conditions (2)
Abnormal brain morphology
Esophageal atresia/tracheoesophageal fistula
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1060499746 | Health Risk | Likely pathogenic | Abnormal brain morphology, Abnormal brain morphology |
| RS750159671 | Health Risk | Likely pathogenic | Esophageal atresia/tracheoesophageal fistula, Esophageal atresia/tracheoesophageal fistula |