ADAMTS17

Chr 15q26.3

ADAM metallopeptidase with thrombospondin type 1 motif 17

Aliases:: FLJ32769, FLJ16363
MANE:: ENST00000268070.9

OMIM: 607511 ↗NCBI: 170691 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

ADAMTS17 · Q8TE56

v62025-08-01

Predicted Aligned Error matrix for ADAMTS17 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

69.8/ 100

Low

1,095 residues

Confidence breakdown

Very high(≥ 90)6%
Confident(70–90)56%
Low(50–70)20%
Very low(< 50)18%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Glaucoma (developmental)
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Structural eye disease
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Abnormality of the skeletal system
0.72
Weill-Marchesani 4 syndrome, recessive
0.70
carpal tunnel syndrome
0.55
neurodegenerative disease
0.50
Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
0.47
Hammer Toe Syndrome
0.43
Weill-Marchesani syndrome
0.39
obstructive sleep apnea syndrome
0.35
mononeuropathy
0.35
Ocular anterior segment dysgenesis
0.33

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

Protein function (UniProt)

A disintegrin and metalloproteinase with thrombospondin motifs 17

Extracellular metalloprotease that regulates skeletal development by modulating BMP-SMAD signaling and extracellular matrix microfibril organization, which controls chondrocyte differentiation and bone growth