A Disintegrin and Metalloproteinase Domain 9

Alternative Names

  • ADAM9
  • Myeloma Cell Metalloproteinase
  • MCMP
  • Metalloproteinase-Like, Disintegrin-Like, and Cysteine-Rich Protein 9
  • MDC9

Associated Diseases

Cone-Rod Dystrophy 9
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OMIM Number

602713

NCBI Gene ID

8754

Uniprot ID

Q13443

Length

108,289 bases

No. of Exons

24

No. of isoforms

2

Protein Name

Disintegrin and metalloproteinase domain-containing protein 9

Molecular Mass

90556 Da

Amino Acid Count

819

Genomic Location

chr8:38,996,973-39,105,261

Gene Map Locus
8p11.22

Description

This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene interacts with SH3 domain-containing proteins, binds mitotic arrest deficient 2 beta protein, and is also involved in TPA-induced ectodomain shedding of membrane-anchored heparin-binding EGF-like growth factor. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_003816.3:c.1130+1G>ASaudi ArabiaNC_000008.11:g.39026811G>APathogenicPathogenicCone-Rod Dystrophy 9NG_016335.2:g.34840G>A; NM_003816.3:c.1130+1G>A; NP_003807.1:p.?7862050856876
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