LOX

Chr 5q23.1

lysyl oxidase

MANE:: ENST00000231004.5

OMIM: 153455 ↗NCBI: 4015 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

LOX · P28300

v62025-08-01

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

Mean pLDDT

67.4/ 100

Low

417 residues

Confidence breakdown

Very high(≥ 90)35%
Confident(70–90)17%
Low(50–70)9%
Very low(< 50)39%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Ehlers Danlos syndrome with a likely monogenic cause
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection (GMS)
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pneumothorax - familial

Disease associations (Open Targets)

familial thoracic aortic aneurysm and aortic dissection
0.81
Abnormality of the cardiovascular system
0.54
Aortic dissection
0.50
marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections
0.50
aortic aneurysm
0.47
Inguinal hernia
0.43
skin aging
0.37
Familial hemophagocytic lymphohistiocytosis
0.34
keratoconus
0.33
Hernia
0.29

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

Protein function (UniProt)

Protein-lysine 6-oxidase

Responsible for the post-translational oxidative deamination of peptidyl lysine residues in precursors to fibrous collagen and elastin (PubMed:26838787). Regulator of Ras expression. May play a role in tumor suppression. Plays a role in the aortic wall architecture (By similarity)