A Disintegrin and Metalloproteinase Domain 17

Alternative Names

  • ADAM17
  • Tumor Necrosis Factor-Alpha Converting Enzyme
  • TACE
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OMIM Number

603639

NCBI Gene ID

6868

Uniprot ID

P78536

Length

68,247 bases

No. of Exons

20

No. of isoforms

2

Protein Name

Disintegrin and metalloproteinase domain-containing protein 17

Molecular Mass

93021 Da

Amino Acid Count

824

Genomic Location

chr2:9,488,486-9,556,732

Gene Map Locus
2p25.1

Description

The ADAM17 gene codes for a protein belonging to the ADAM family of membrane-bound proteins. There is some evidence to indicate that the protein may be involved in mdiating immune response. 

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_003183.5:c.603_606delCAGA Lebanonchr2:9527802-9527805PathogenicPathogenicInflammatory Skin and Bowel Disease, Neonatal, 1NG_029873.1:g.32987_32990delCAGA ; NM_003183.5:c.603_606delCAGA ; NP_003174.3:p.Asp201Glufs38790686630374
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