TBX5(redirected from OTTHUMP00000232132)
TBX5A gene on chromosome 12q24.1 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; TBX5 plays a role in cardiac development and specification of limb identity.
TBX5 mutations are associated with Holt-Oram syndrome, a developmental disorder affecting the heart and upper limb.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.