A Disintegrin-Like And Metalloproteinase With Thrombospondin Type 1 Motif, 17

Alternative Names

  • ADAMTS17

Associated Diseases

Weill-Marchesani Syndrome 4
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OMIM Number

607511

NCBI Gene ID

170691

Uniprot ID

Q8TE56

Length

371,488 bases

No. of Exons

32

No. of isoforms

2

Protein Name

A disintegrin and metalloproteinase with thrombospondin motifs 17

Molecular Mass

121127 Da

Amino Acid Count

1095

Genomic Location

chr15:99,971,436-100,342,923

Gene Map Locus
15q26.3

Description

ADAMTS17 belongs to the ADAMTS family of zinc dependent proteases.  This family is involved in several biological processes such as connective tissue structure, cancer, angiogenesis and cell migration.  While the specific function of ADAMTS17 is unknown, it has been speculated to play a role in the crystalline lens zonular formation or maintenance.  This is further supported by the fact that two other ADAMTS genes, ADAMTS10 and ADAMTS18, have been implicated in the ocular diseases; Weill-Marchesani syndrome and Knobloch syndrome, respectively. 

Mutations in the ADAMTS17 gene are associated with Weill-Marchesani-like syndrome, an autosomal recessive disorder characterized by myopia, ectopia lentis, spherophakia, glaucoma and short stature.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_139057.3:c.652delSaudi ArabiaNC_000015.10:g.100281368delPathogenicLikely PathogenicWeill-Marchesani Syndrome 4NG_016287.2:g.65613del; NM_139057.3:c.652del; NP_620688.2:p.Asp218ThrfsTer411555501030492940

Other Reports

Saudi Arabia

Khan et al. (2012) aimed to identify the genetic defect causing Weill-Marchesani-like syndrome in two siblings.  The patients, a 22-year-old female and a 16-year-old male, were born to consanguineous parents of Saudi origin.  The parents were healthy and had nine other unaffected children.  Both patients had no other symptoms besides short stature and a need for glasses.  An ophthalmic investigation found significant spherophakia in both patients.  The affected patients, five of their siblings and their mother were subjected to genetic testing.  Homozygosity mapping revealed ADAMTS17 to be the most likely candidate gene.  A novel homozygous deletion, c.652delG, resulting in a frameshift and subsequent termination (p.Asp218ThrfsX41) was discovered in the affected patients.  The mother and three siblings were found to be heterozygous for the mutation.   

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