TBX4

T-box 4

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 gene is the human homolog of mouse Tbx4, which is closely linked to Tbx2 on mouse chromosome 11. Similarly this gene, like TBX2, maps to human chromosome 17. Expression studies in mouse and chicken show that Tbx4 is expressed in developing hindlimb, but not in forelimb buds, suggesting a role for this gene in regulating limb development and specification of limb identity. [provided by RefSeq, Jul 2008]

From UniProt:

Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a role in limb pattern formation.

From NCBI Gene:

  • Ischiopatellar dysplasia

From UniProt:

Ischiocoxopodopatellar syndrome (ICPPS): An autosomal dominant bone disease characterized by patellar aplasia or hypoplasia and by anomalies of the pelvis and feet, including disrupted ossification of the ischia and inferior pubic rami. [MIM:147891]

Cytogenetic Location: 17q23.2, which is the long (q) arm of chromosome 17 at position 23.2

Molecular Location: base pairs 61,452,418 to 61,485,110 on chromosome 17 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 17q23.2, which is the long (q) arm of chromosome 17 at position 23.2
  • ICPPS
  • SPS