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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ADAMTS17
ADAM metallopeptidase with thrombospondin type 1 motif 17
Chromosome 15 Β· 15q26.3
NCBI Gene: 170691Ensembl: ENSG00000140470.15HGNC: HGNC:17109UniProt: H3BRA9
31PubMed Papers
21Diseases
0Drugs
68Pathogenic Variants
FUNCTIONAL ROLE
Protease
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
metalloendopeptidase activityproteolysisextracellular matrix organizationextracellular matrixWeill-Marchesani 4 syndrome, recessiveAbnormality of the skeletal systemWeill-Marchesani syndromeIchthyosis-short stature-brachydactyly-microspherophakia syndrome
✦AI Summary

ADAMTS17 is a secreted metalloprotease that plays critical roles in extracellular matrix (ECM) organization and tissue development. The enzyme functions as a zinc metalloendopeptidase with substrates including ECM proteins such as fibronectin and collagen VI 1. ADAMTS17 operates through regulation of ECM protein secretion and pericellular matrix assembly, appearing to act as a critical regulator of ECM formation at early stages compared to its related protease ADAMTS10 2. The protein undergoes alternative splicing that significantly modulates its function, with variants affecting both secretion and autoproteolytic activity 3. ADAMTS17 is clinically significant as biallelic mutations cause Weill-Marchesani syndrome 4, a connective tissue disorder characterized by short stature, joint contractures, tight skin, and cardiac valve abnormalities 4. The syndrome genetics suggest ADAMTS17 functions in a common pathway with fibrillin-1, contributing to musculoskeletal development and growth plate function 5. Double knockout studies demonstrate that ADAMTS17 and ADAMTS10 have overlapping but distinct roles, with combined deficiency causing severe bone shortening and compromised chondrocyte hypertrophy 1. Additionally, ADAMTS17 polymorphisms may influence susceptibility to lumbar disc herniation 6.

Sources cited
1
ADAMTS17 substrates include ECM proteins fibronectin and collagen VI, and deficiency causes bone shortening
PMID: 41034152
2
ADAMTS17 regulates ECM protein secretion and pericellular matrix assembly
PMID: 39896540
3
Alternative splicing of ADAMTS17 affects secretion and autoproteolytic activity
PMID: 33484187
4
ADAMTS17 mutations cause Weill-Marchesani syndrome 4 with short stature and cardiac abnormalities
PMID: 37506754
5
ADAMTS17 functions in a common pathway with fibrillin-1 in tissue development
PMID: 32290605
6
ADAMTS17 polymorphisms may influence lumbar disc herniation susceptibility
PMID: 36810712
Disease Associationsβ“˜21
Weill-Marchesani 4 syndrome, recessiveOpen Targets
0.73Strong
Abnormality of the skeletal systemOpen Targets
0.72Strong
Weill-Marchesani syndromeOpen Targets
0.64Moderate
Ichthyosis-short stature-brachydactyly-microspherophakia syndromeOpen Targets
0.55Moderate
carpal tunnel syndromeOpen Targets
0.54Moderate
neurodegenerative diseaseOpen Targets
0.50Moderate
Hammer Toe SyndromeOpen Targets
0.43Moderate
mononeuropathyOpen Targets
0.34Weak
obstructive sleep apneaOpen Targets
0.34Weak
anterior segment dysgenesisOpen Targets
0.33Weak
Ocular anterior segment dysgenesisOpen Targets
0.33Weak
blood coagulation diseaseOpen Targets
0.32Weak
COVID-19Open Targets
0.30Weak
severe acute respiratory syndromeOpen Targets
0.30Weak
ovarian neoplasmOpen Targets
0.29Weak
male reproductive system diseaseOpen Targets
0.29Weak
bone remodeling diseaseOpen Targets
0.29Weak
lower urinary tract calculusOpen Targets
0.28Weak
cardiac transplantOpen Targets
0.28Weak
autoimmune disorder of musculoskeletal systemOpen Targets
0.27Weak
Weill-Marchesani syndrome 4UniProt
Pathogenic Variants68
NM_139057.4(ADAMTS17):c.197_206del (p.Arg66fs)Pathogenic
Weill-Marchesani 4 syndrome, recessive|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 66
NM_139057.4(ADAMTS17):c.1721+1G>APathogenic
Weill-Marchesani 4 syndrome, recessive|not provided
β˜…β˜…β˜†β˜†2024
NM_139057.4(ADAMTS17):c.2560C>T (p.Arg854Ter)Pathogenic
Weill-Marchesani 4 syndrome, recessive|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 854
NM_139057.4(ADAMTS17):c.1075+1G>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2026
NM_139057.4(ADAMTS17):c.913G>T (p.Glu305Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 305
NM_139057.4(ADAMTS17):c.367G>T (p.Glu123Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 123
NM_139057.4(ADAMTS17):c.2797-1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_139057.4(ADAMTS17):c.2912C>G (p.Ser971Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 971
NM_139057.4(ADAMTS17):c.2033dup (p.Ile679fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 679
NM_139057.4(ADAMTS17):c.2426G>A (p.Trp809Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 809
NM_139057.4(ADAMTS17):c.1322+2T>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_139057.4(ADAMTS17):c.1888+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_139057.4(ADAMTS17):c.2344_2345del (p.Val782fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 782
NM_139057.4(ADAMTS17):c.2712C>A (p.Tyr904Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 904
NM_139057.4(ADAMTS17):c.1889-1G>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_139057.4(ADAMTS17):c.955C>T (p.Arg319Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 319
NM_139057.4(ADAMTS17):c.1721+1G>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_139057.4(ADAMTS17):c.862C>T (p.Arg288Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 288
NM_139057.4(ADAMTS17):c.2392C>T (p.Gln798Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 798
NM_139057.4(ADAMTS17):c.2017-1G>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
View on ClinVar β†—
Related Genes
ADAMTS6Shared pathway100%ADAMTS20Shared pathway100%FBN2Protein interaction90%FBN1Protein interaction86%ADAMTS10Shared pathway76%MMP17Shared pathway67%
Tissue Expression6 tissues
Liver
100%
Ovary
27%
Brain
25%
Lung
20%
Bone Marrow
12%
Heart
8%
Gene Interaction Network
Click a node to explore
ADAMTS17ADAMTS6ADAMTS20FBN2FBN1ADAMTS10MMP17
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8TE56
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.97LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.83 [0.71–0.97]
RankingsWhere ADAMTS17 stands among ~20K protein-coding genes
  • #11,653of 20,598
    Most Researched31
  • #1,075of 5,498
    Most Pathogenic Variants68 Β· top quartile
  • #9,157of 17,882
    Most Constrained (LOEUF)0.97
Genes detectedADAMTS17
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Combined ADAMTS10 and ADAMTS17 inactivation exacerbates bone shortening and skin phenotypes.
PMID: 41034152
Life Sci Alliance Β· 2025
1.00
2
The ADAMTS/Fibrillin Connection: Insights into the Biological Functions of ADAMTS10 and ADAMTS17 and Their Respective Sister Proteases.
PMID: 32290605
Biomolecules Β· 2020
0.90
3
Combined ADAMTS10 and ADAMTS17 inactivation exacerbates bone shortening and compromises extracellular matrix formation.
PMID: 39896540
bioRxiv Β· 2025
0.80
4
Characteristics and genotype-phenotype correlations in ADAMTS17 mutation-related Weill-Marchesani syndrome.
PMID: 37506754
Exp Eye Res Β· 2023
0.70
5
ADAMTS proteins in human disorders.
PMID: 29885460
Matrix Biol Β· 2018
0.60