UBTF Chromosome 17
Upstream binding transcription factor
Upload your DNA to see your personal genotypes for variants in UBTF.
What This Gene Does
This gene encodes a member of the HMG-box DNA-binding protein family. The encoded protein plays a critical role in ribosomal RNA transcription as a key component of the pre-initiation complex, mediating the recruitment of RNA polymerase I to rDNA promoter regions. The encoded protein may also play important roles in chromatin remodeling and pre-rRNA processing, and its activity is regulated by both phosphorylation and acetylation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Pseudogenes of this gene are located on the short arm of chromosomes 3, 11 and X and the long arm of chromosome 11. [provided by RefSeq, Aug 2011]
Gene Info
Gene Group
MicroRNA protein coding host genes
Locus Type
gene with protein product
Location
17q21.31
Ensembl
ENSG00000108312
Associated Conditions (9)
UBTF E210K Neuroregression Syndrome
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
Infantile or childhood onset neurodegenerative disease
global developmental delay
and intellectual disability
UBTF-related disorder
Rare syndromic intellectual disability
Inborn genetic diseases
See cases
Key Variants
RS1236405535
Likely pathogenic
Health Risk
RS1555577265
Likely pathogenic
Health Risk
RS1567797466
Likely pathogenic
Health Risk
RS1555582065
Pathogenic/Likely pathogenic
UBTF E210K Neuroregression Syndrome, Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder, Infantile or childhood onset neurodegenerative disease
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1236405535 | Health Risk | Likely pathogenic | — |
| RS1555577265 | Health Risk | Likely pathogenic | — |
| RS1567797466 | Health Risk | Likely pathogenic | — |
| RS1555582065 | Health Risk | Pathogenic/Likely pathogenic | UBTF E210K Neuroregression Syndrome, Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder, Infantile or childhood onset neurodegenerative disease |