TBX1


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TBX1

A gene on chromosome 22q11.21 that encodes a DNA-binding member of the phylogenetically conserved family of genes that have a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in regulating development.
 
Molecular pathology
TBX1 deletions are associated with DiGeorge/velocardiofacial syndrome, which is characterised by neural-crest developmental defects.
References in periodicals archive ?
Systematic survey of variants in TBX1 in nonsyndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants.
One of those genes, TBX1, holds the genetic code for a type of protein called a transcription factor-which regulates other genes.
It's clear that TBX1 is important to this syndrome, but it might not be the whole story in humans," she says.
Only three TFBS genes were overrepresented among loci whose methylation was associated with LINE-1 methylation: MEF2, TBX1, and POU2F1.