A Disintegrin-Like and Metalloproteinase with Thrombospondin Type 1 Motif, 9

Alternative Names

  • ADAMTS9
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OMIM Number

605421

NCBI Gene ID

56999

Uniprot ID

Q9P2N4

Length

172,347 bases

No. of Exons

41

No. of isoforms

4

Protein Name

A disintegrin and metalloproteinase with thrombospondin motifs 9

Molecular Mass

216491 Da

Amino Acid Count

1935

Genomic Location

chr3:64,515,653-64,687,999

Gene Map Locus
3p14.1

Description

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. Members of the ADAMTS family have been implicated in the cleavage of proteoglycans, the control of organ shape during development, and the inhibition of angiogenesis. This gene is localized to chromosome 3p14.3-p14.2, an area known to be lost in hereditary renal tumors. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NR_038264.1:n.469+40890C>TLebanonNC_000003.12:g.64726228C>TBenignNR_038264.1:n.469+40890C>T4607103
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