Variants
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TBXT Gene

T-box transcription factor T

ALIAS SYMBOLS

  • None

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Description

The TBXT gene provides instructions for making a protein called brachyury. Brachyury is a member of a protein family called T-box proteins, which play critical roles during embryonic development. T-box proteins regulate the activity of other genes by attaching (binding) to specific regions of DNA. On the basis of this action, T-box proteins are called transcription factors.

The brachyury protein is important for the development of the notochord, which is the precursor of the spinal column in the embryo. The notochord disappears before birth, but in a small percentage of individuals, some of its cells remain in the base of the skull or in the spine. The notochord helps control the development of the neural tube, which is a layer of cells that ultimately develops into the brain and spinal cord.

CHROMOSOME

6


LOCATION

q27


LOCUS TYPE

gene with protein product

VARIANTS

14

SEE THE VARIANTS →

Phenotypes

External Links

  • HGNC

    HGNC:11515

  • NCBI

    6862

  • OMIM

    601397

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