PAX1

Chr 20p11.22

paired box 1

MANE:: ENST00000613128.5

OMIM: 167411 ↗NCBI: 5075 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PAX1 · P15863

v62025-08-01

Predicted Aligned Error matrix for PAX1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

54.6/ 100

Low

534 residues

Confidence breakdown

Very high(≥ 90)18%
Confident(70–90)5%
Low(50–70)10%
Very low(< 50)67%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

otofaciocervical syndrome 2
0.72
otofaciocervical syndrome
0.60
otofaciocervical syndrome 1
0.37
Abnormality of the ear
0.37
androgenetic alopecia
0.34
hair color
0.29
adolescent idiopathic scoliosis
0.28
Visual field defect
0.28
craniofacial microsomia
0.27
skin aging
0.26

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

Protein function (UniProt)

Paired box protein Pax-1

This protein is a transcriptional activator. It may play a role in the formation of segmented structures of the embryo. May play an important role in the normal development of the vertebral column (By similarity)