Aliases for PRRX1 Gene
External Ids for PRRX1 Gene
Previous HGNC Symbols for PRRX1 Gene
Previous GeneCards Identifiers for PRRX1 Gene
The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription co-activator, enhancing the DNA-binding activity of serum response factor, a protein required for the induction of genes by growth and differentiation factors. The protein regulates muscle creatine kinase, indicating a role in the establishment of diverse mesodermal muscle types. Alternative splicing yields two isoforms that differ in abundance and expression patterns. [provided by RefSeq, Jul 2008]
GeneCards Summary for PRRX1 Gene
PRRX1 (Paired Related Homeobox 1) is a Protein Coding gene. Diseases associated with PRRX1 include agnathia-otocephaly complex and dysgnathia complex. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and transcription coactivator activity. An important paralog of this gene is PHOX2B.
UniProtKB/Swiss-Prot for PRRX1 Gene
Acts as a transcriptional regulator of muscle creatine kinase (MCK) and so has a role in the establishment of diverse mesodermal muscle types. The protein binds to an A/T-rich element in the muscle creatine enhancer (By similarity).