TIMP3
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- 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)
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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.
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- Location:22q12.3
- Orientation: Plus strand
- Size: 62,225 bases
- 5 Exons
- DNA Sequence: NT_011520
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- Mutations and SNPs (According
to HGMD and SNP)
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- Size: 211 amino
acids; 24145 Da
- Catalytic activity:
- Sub cellular location: Secreted; extracellular
matrix
- Protein domains:
- Protein sequence: P35625
Homologous
genes:
2D PAGE:
3D
Structure:
- PTM: TIMP3
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