PRRX1 est un gène codé par le symbole PRRX1. Communément appelé aussi: Paired mesoderm homeobox protein 1; Homeobox protein PHOX1; Paired-related homeobox protein 1; PRX-1; PMX1. PRRX1 a une masse de 27.3kDa, une longueur d'acide aminé de 245, et est impliqué dans Agnathia-otocephaly complex.
Nous proposons 9 des anticorps contre PRRX1, élevé dans Lapin, Souris et Chèvre, qui sont appropriés pour le WB, IHC, ELISA et ICC/IF avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
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).
Résumé Entrez
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.
Implication dans la maladie
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.
Similitudes de séquence
Belongs to the paired homeobox family.
Localisation cellulaire
Nucleus.
