TLL1

Chr 4q32.3

tolloid like 1

MANE:: ENST00000061240.7

OMIM: 606742 ↗NCBI: 7092 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

TLL1 · O43897

v62025-08-01

Predicted Aligned Error matrix for TLL1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

80.3/ 100

Confident

1,013 residues

Confidence breakdown

Very high(≥ 90)41%
Confident(70–90)42%
Low(50–70)5%
Very low(< 50)12%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Familial non syndromic congenital heart disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric disorders - additional genes
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

atrial septal defect
0.65
atrial septal defect 1
0.43
vein disorder
0.39
lymphatic system disorder
0.39
atrial septal defect, ostium primum type
0.38
atrial septal defect, ostium secundum type
0.38
neurodegenerative disease
0.33
Progressive visual loss
0.33
Abnormality of refraction
0.32
Abnormality of skin pigmentation
0.32

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

Protein function (UniProt)

Tolloid-like protein 1

Protease which processes procollagen C-propeptides, such as chordin, pro-biglycan and pro-lysyl oxidase. Required for the embryonic development. Predominant protease, which in the development, influences dorsal-ventral patterning and skeletogenesis