PRRX1

Chr 1q24.2

paired related homeobox 1

Aliases:: PHOX1
MANE:: ENST00000239461.11

OMIM: 167420 ↗NCBI: 5396 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PRRX1 · P54821

v62025-08-01

Predicted Aligned Error matrix for PRRX1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

64.9/ 100

Low

245 residues

Confidence breakdown

Very high(≥ 90)23%
Confident(70–90)11%
Low(50–70)33%
Very low(< 50)33%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare syndromic craniosynostosis or isolated multisuture synostosis
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Monogenic hearing loss

Disease associations (Open Targets)

agnathia-otocephaly complex
0.69
atrial fibrillation
0.56
Agnathia - holoprosencephaly - situs inversus
0.56
cardiac arrhythmia
0.50
craniosynostosis
0.49
atrial flutter
0.48
Abnormality of the skeletal system
0.48
aortic stenosis
0.45
eyelid disorder
0.39
aortic valve disorder
0.39

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Paired mesoderm homeobox protein 1

Master transcription factor of stromal fibroblasts for myofibroblastic lineage progression. Orchestrates the functional drift of fibroblasts into myofibroblastic phenotype via TGF-beta signaling by remodeling a super-enhancer landscape. Through this function, plays an essential role in wound healing process (PubMed:35589735). 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). May play a role in homeostasis and regeneration of bone, white adipose tissue and derm (By similarity)