TIMP3

                                                                                  (Tissue inhibitor of metalloproteinase-3)

  • Alias                                 (According to NCBI)

 
  • HSMRK222
  • K222TA2
  • SFD
  • K222 expressed in degenerative retinas
  • Tissue inhibitor of metalloproteinase-3
  • tissue inhibitor of metalloproteinase 3 (Sorsby fundus dystrophy, pseudoinflammatory) 
  • Metalloproteinase inhibitor 3 precursor (TIMP-3) (Tissue inhibitor of metalloproteinases-3) (MIG-5
    protein)

  • This gene belongs to the TIMP gene family. The proteins encoded by this gene family are natural inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix. The expression of this gene is induced in response to mitogenic stimulation and subject to cell cycle regulation. Mutations in this gene cause the autosomal dominant disorder Sorsby's fundus dystrophy.
  • Location:22q12.3
  • Orientation: Plus strand
  • Size: 62,225 bases
  • 5 Exons
  • DNA Sequence: NT_011520

  • CGH (22q12.3): Losses (%) -6.3   Gain (%)  11.3   Amplifications  0.0
  • Mutations and SNPs  (According to HGMD and SNP)

 
  • m-RNA                           (According to NCBI and CGAP)

 
  • Size: 211 amino acids; 24145 Da
  • Sub cellular location: Secreted; extracellular matrix
  • Protein domains:

                                                     
  • Pathways and interactions (According to BioCarta, DIP)
  • Clinical                            (According to OMIM, PubMed)