TTF1 Chromosome 9

Transcription termination factor 1
1 variant 1 Health Risk

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What This Gene Does
This gene encodes a transcription termination factor that is localized to the nucleolus and plays a critical role in ribosomal gene transcription. The encoded protein mediates the termination of RNA polymerase I transcription by binding to Sal box terminator elements downstream of pre-rRNA coding regions. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. This gene shares the symbol/alias 'TFF1' with another gene, NK2 homeobox 1, also known as thyroid transcription factor 1, which plays a role in the regulation of thyroid-specific gene expression. [provided by RefSeq, Apr 2011]
Gene Info
Gene Group
Myb/SANT domain containing
Locus Type
gene with protein product
Location
9q34.13
Ensembl
ENSG00000125482
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS748912949 Health Risk Conflicting classifications of pathogenicity
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