PRRX1 gene

paired related homeobox 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From 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.

From NCBI Gene:

  • Dysgnathia complex

From UniProt:

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. [MIM:202650]

Cytogenetic Location: 1q24, which is the long (q) arm of chromosome 1 at position 24

Molecular Location: base pairs 170,662,728 to 170,739,400 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1q24, which is the long (q) arm of chromosome 1 at position 24
  • AGOTC
  • PHOX1
  • PMX1
  • PRX-1
  • PRX1