CDX4 (gene)

CDX4 is a gene that in humans is encoded by the CDX4 gene. It is a member of the caudal-related homeobox transcription factor family. The encoded protein is a major regulator of cell differentiation and morphogenesis. Mutations in this gene have been associated with congenital anomalies of the kidney and urinary tract (CAKUT).

Function

The CDX4 gene is a member of the caudal-related homeobox transcription factor gene family. The encoded protein is a major regulator of cell differentiation and morphogenesis. This gene is highly expressed in embryonic stem cells and various adult tissues. It plays a key role in the development of the nervous system, kidney, and gastrointestinal tract.

Clinical significance

Mutations in the CDX4 gene have been associated with congenital anomalies of the kidney and urinary tract (CAKUT). These anomalies can include renal dysplasia, renal hypoplasia, and vesicoureteral reflux. Patients with mutations in this gene may also present with abdominal pain, hematuria, and recurrent urinary tract infections.

Research

Research into the CDX4 gene has focused on its role in cell differentiation and morphogenesis, as well as its potential role in the development of certain types of cancer. Some studies suggest that overexpression of the CDX4 gene may contribute to the development of leukemia and colorectal cancer.

See also

• Homeobox
• Transcription factor
• Cell differentiation
• Morphogenesis
• Congenital anomalies of the kidney and urinary tract