PRRX1

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]

paired related homeobox 1

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).

Artery morphogenesisIEA:Ensembl
Cartilage developmentIEA:Ensembl
Embryonic cranial skeleton morphogenesisIEA:Ensembl
Biological Process embryonic limb morphogenesisIEA:Ensembl
Inner ear morphogenesisIEA:Ensembl
Mesenchymal cell proliferationIEA:Ensembl
Middle ear morphogenesisIEA:Ensembl
Neuron fate determinationIEA:Ensembl
Neuronal stem cell population maintenanceIEA:Ensembl
Positive regulation of DNA repair by transcription from RNA polymerase II promoterManual Assertion Based On ExperimentIDA:ARUK-UCL
Positive regulation of mesenchymal cell proliferationIEA:Ensembl
Positive regulation of smoothened signaling pathwayIEA:Ensembl
Positive regulation of stem cell proliferationIEA:Ensembl
Regulation of neuron projection regenerationIEA:Ensembl
Regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Roof of mouth developmentIEA:Ensembl
Smoothened signaling pathwayIEA:Ensembl
Stem cell proliferationIEA:Ensembl

Nucleus

Agnathia-otocephaly complex (AGOTC):
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.