MedlinePlus Health Topics

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/MEDLINEPLUS/C1420603
http://purl.bioontology.org/ontology/MEDLINEPLUS/C1420603
Preferred Name

T-box transcription factor 1

Definitions
The TBX1 gene provides instructions for making a protein called T-box protein 1. Genes in the T-box family play important roles in the formation of tissues and organs during embryonic development. To carry out these roles, proteins produced from these genes bind to specific areas of DNA. The proteins attach to critical regions near genes and help control the activity of those genes. T-box proteins are called transcription factors on the basis of this action.~T-box protein 1 appears to be necessary for the normal development of muscles and bones of the face and neck, large arteries that carry blood out of the heart, structures in the ear, and glands such as the thymus and parathyroid. Although T-box protein 1 acts as a transcription factor, researchers have not determined which genes are regulated by this protein.
Synonyms
VCFS
CAFS
Testis-specific T-box protein
CTHM
TBX1_HUMAN
DGCR
DORV
TGA
DGS
TBX1
TBX1C
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Type http://www.w3.org/2002/07/owl#Class
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