Paired Related Homeobox 1 (PRRX1) Human Recombinant Protein

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]

PRRX1: 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. Defects in PRRX1 are the cause of agnathia-otocephaly complex (AGOTC). AGOTC is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal. Belongs to the paired homeobox family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: DNA-binding

Chromosomal Location of Human Ortholog: 1q24

Cellular Component: nucleolus; nucleus

Molecular Function: sequence-specific DNA binding; transcription coactivator activity

Biological Process: inner ear morphogenesis; cartilage development; positive regulation of mesenchymal cell proliferation; artery morphogenesis; positive regulation of smoothened signaling pathway; middle ear morphogenesis; embryonic cranial skeleton morphogenesis; palate development; negative regulation of transcription from RNA polymerase II promoter; embryonic limb morphogenesis

Disease: Agnathia-otocephaly Complex