TBX4 gene

T-box transcription factor 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:

Transcriptional regulator that has an essential role in the organogenesis of lungs, pelvis, and hindlimbs.

From NCBI Gene:

  • Coxopodopatellar syndrome
  • Amelia, autosomal recessive

From UniProt:

Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome (PAPPAS): An autosomal recessive, lethal embryonic syndrome characterized by absent hindlimbs, pulmonary hypoplasia, severely hypoplastic or absent pelvic bones, hypoplasia of the sacrum, and ambiguous genitalia. [MIM:601360]

Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension (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 61,452,422 to 61,485,110 on chromosome 17 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

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