A Disintegrin-Like and Metalloproteinase with Thrombospondin Type 1 Motif, 10

Alternative Names

  • ADAMTS10
Back to search Result
OMIM Number

608990

NCBI Gene ID

13201

Uniprot ID

Q9H324

Length

30,514 bases

No. of Exons

24

No. of isoforms

2

Protein Name

A disintegrin and metalloproteinase with thrombospondin motifs 10

Molecular Mass

120874 Da

Amino Acid Count

1103

Genomic Location

chr19:8,580,240-8,610,753

Gene Map Locus
19p13.3-p13.2

Description

ADAMTS10 gene is a member of the ADAMTS family of zinc-dependent extracellular protease family. All ADAMTS members produce complex enzymes which contain a prometalloprotease domain of the reprolysin type attached to an ancillary domain with a highly conserved structure. These enzymes play important roles in connective tissue organization, coagulation, inflammation, arthritis, angiogenesis and cell migration.

Mutations in ADAMTS10 gene are associated with autosomal recessive Weill-Marchesani syndrome.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_030957.3:c.1190+1G>ASaudi ArabiaNC_000019.10:g.8596306C>TPathogenicPathogenicNG_011840.2:g.19397G>A; NM_030957.3:c.1190+1G>A ; NP_112219.3:p.?4318251701945
NM_030957.3:c.709C>TLebanonNC_000019.10:g.8601029G>APathogenicPathogenicWeill-Marchesani Syndrome, Autosomal RecessiveNG_011840.2:g.14674C>T; NM_030957.3:c.709C>T ; NP_112219.3:p.Arg237Ter1214343571944
© CAGS 2024. All rights reserved.