PRRX1

Chr 1

paired related homeobox 1

Also known as: AGOTC, PHOX1, PMX1, PRX-1, PRX1

NCBI Gene: 5396 ENSG00000116132 UniProt: P54821

This gene encodes a homeobox transcription factor that regulates muscle creatine kinase and controls myofibroblast differentiation, playing essential roles in wound healing and mesodermal tissue development. Mutations cause agnathia-otocephaly complex, a severe congenital malformation involving absent or underdeveloped jaw and abnormal ear positioning. The condition shows both autosomal dominant and autosomal recessive inheritance patterns.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtAgnathia-otocephaly complex

Clinical highlights

Interpreting a novel variant

A dominant-negative effect is the curated mechanism (Gene2Phenotype), so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.66

LOEUF

Mechanism· G2P

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429