TIMP3

TIMP metallopeptidase inhibitor 3

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene belongs to the TIMP gene family. The proteins encoded by this gene family are inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix (ECM). Expression of this gene is induced in response to mitogenic stimulation and this netrin domain-containing protein is localized to the ECM. Mutations in this gene have been associated with the autosomal dominant disorder Sorsby's fundus dystrophy. [provided by RefSeq, Jul 2008]

From UniProt:

Complexes with metalloproteinases (such as collagenases) and irreversibly inactivates them by binding to their catalytic zinc cofactor. May form part of a tissue-specific acute response to remodeling stimuli. Known to act on MMP-1, MMP-2, MMP-3, MMP-7, MMP-9, MMP-13, MMP-14 and MMP-15.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Sorsby fundus dystrophy

From UniProt:

Sorsby fundus dystrophy (SFD): Rare autosomal dominant macular disorder with an age of onset in the fourth decade. It is characterized by loss of central vision from subretinal neovascularization and atrophy of the ocular tissues. Generally, macular disciform degeneration develops in the patients eye within 6 months to 6 years. [MIM:136900]

Cytogenetic Location: 22q12.3, which is the long (q) arm of chromosome 22 at position 12.3

Molecular Location: base pairs 32,800,816 to 32,863,041 on chromosome 22 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 22q12.3, which is the long (q) arm of chromosome 22 at position 12.3
  • HSMRK222
  • K222
  • K222TA2
  • SFD