PRRX1

PRRX1 or Paired Related Homeobox 1 is a protein that in humans is encoded by the PRRX1 gene. This protein is a member of the PRD (PRDI-BF1 and RIZ) homology domain family of transcription factors.

Function

PRRX1 is a homeodomain transcription factor that plays a crucial role in embryonic development. It is involved in the formation of skeletal muscle and the cardiovascular system, as well as the development of the craniofacial region.

Clinical Significance

Mutations in the PRRX1 gene have been associated with various medical conditions. For instance, it has been linked to Agnathia-otocephaly complex, a rare and severe developmental disorder that affects the formation of the lower jaw and ear.

In addition, PRRX1 has been implicated in cancer progression. It is believed to play a role in the epithelial-mesenchymal transition (EMT), a process that is often activated during cancer metastasis.

Structure

The PRRX1 protein consists of a homeodomain, which is a protein domain that binds DNA. This allows it to regulate the expression of target genes. The protein also contains a PRD-like class homeobox domain, which is thought to be involved in protein-protein interactions.

See Also

• Homeobox
• Transcription factor
• Epithelial-mesenchymal transition
• Agnathia-otocephaly complex