PRRX1 ist ein Gen, das durch das Symbol PRRX1 kodiert wird. Im Allgemeinen auch bezeichnet als: Paired mesoderm homeobox protein 1; Homeobox protein PHOX1; Paired-related homeobox protein 1; PRX-1; PMX1. PRRX1 hat eine Masse von 27.3kDa, eine Aminosäurelänge von 245, und ist an Agnathia-otocephaly complex beteiligt.
Wir bieten 9 antikörper gegen PRRX1, aufgewachsen in Kaninchen, Maus und Ziege, welche geeignet sind für WB, IHC, ELISA and ICC/IF mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
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).
Entrez Zusammenfassung
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.
Rolle bei Krankheiten
Agnathia-otocephaly complex: 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.
Sequenzähnlichkeiten
Belongs to the paired homeobox family.
