PRRX1 è un gene codificato dal simbolo PRRX1. Comunemente indicato anche come: Paired mesoderm homeobox protein 1; Homeobox protein PHOX1; Paired-related homeobox protein 1; PRX-1; PMX1. PRRX1 ha una massa di 27.3kDa, una lunghezza di amminoacidi di 245, ed è implicato in Agnathia-otocephaly complex.
Offriamo 9 anticorpi contro PRRX1, allevati nel Coniglio, Topo e Capra, che sono adatti per WB, IHC, ELISA e ICC/IF con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo 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).
Sommario di 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.
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the paired homeobox family.
Posizione cellulare
Nucleus.
