TBXT Chromosome 6
T-box transcription factor T
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What This Gene Does
The protein encoded by this gene is an embryonic nuclear transcription factor that binds to a specific DNA element, the palindromic T-site. It binds through a region in its N-terminus, called the T-box, and effects transcription of genes required for mesoderm formation and differentiation. The protein is localized to notochord-derived cells. Variation in this gene was associated with susceptibility to neural tube defects and chordoma. A mutation in this gene was found in a family with sacral agenesis with vertebral anomalies. [provided by RefSeq, Sep 2018]
Gene Info
Gene Group
T-box transcription factors
Locus Type
gene with protein product
Location
6q27
Ensembl
ENSG00000164458
Associated Conditions (3)
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
Neural tube defects
susceptibility to
Key Variants
RS2128522189
Likely pathogenic
Health Risk
RS587777303
Pathogenic
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome, Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
Health Risk
RS3127334
risk factor
Neural tube defects, susceptibility to, Neural tube defects
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2128522189 | Health Risk | Likely pathogenic | — |
| RS587777303 | Health Risk | Pathogenic | Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome, Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome |
| RS3127334 | Health Risk | risk factor | Neural tube defects, susceptibility to, Neural tube defects |