TBX3 gene

T-box 3

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined. [provided by RefSeq, Jul 2008]

From UniProt:

Transcriptional repressor involved in developmental processes. Probably plays a role in limb pattern formation. Acts as a negative regulator of PML function in cellular senescence.

From NCBI Gene:

  • Ulnar-mammary syndrome

From UniProt:

Ulnar-mammary syndrome (UMS): Characterized by ulnar ray defects, obesity, hypogenitalism, delayed puberty, hypoplasia of nipples and apocrine glands. [MIM:181450]

Cytogenetic Location: 12q24.21, which is the long (q) arm of chromosome 12 at position 24.21

Molecular Location: base pairs 114,670,254 to 114,684,164 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12q24.21, which is the long (q) arm of chromosome 12 at position 24.21
  • TBX3-ISO
  • UMS
  • XHL