COL25A1

Chr 4q25

collagen type XXV alpha 1 chain

MANE:: ENST00000399132.6

OMIM: 610004 ↗NCBI: 84570 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

COL25A1 · Q9BXS0

v62025-08-01

Predicted Aligned Error matrix for COL25A1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

57.3/ 100

Low

654 residues

Confidence breakdown

Very high(≥ 90)2%
Confident(70–90)10%
Low(50–70)60%
Very low(< 50)28%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Arthrogryposis
BIALLELIC, autosomal or pseudoautosomal
Congenital fibrosis of the extraocular muscles
BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability

Disease associations (Open Targets)

Congenital ptosis
0.68
congenital fibrosis of the extraocular muscles
0.60
congenital fibrosis of extraocular muscles
0.46
arthrogryposis multiplex congenita
0.44
atrial fibrillation
0.39
Duane retraction syndrome
0.37
Neurogenic arthrogryposis multiplex congenita
0.37
aortic stenosis
0.37
corneal dystrophy
0.29
respiratory system disorder
0.29

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

Protein function (UniProt)

Collagen alpha-1(XXV) chain

Inhibits fibrillization of amyloid-beta peptide during the elongation phase. Has also been shown to assemble amyloid fibrils into protease-resistant aggregates. Binds heparin