TIMP3 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human TIMP3 wild-type allele is located within 22q12.1-q13.2 and is approximately 62 kb in length. This allele, which encodes metalloproteinase inhibitor 3 protein, plays a role in extracellular matrix stabilization. Mutations in this gene are associated with Sorsby fundus dystrophy.

**Synonyms:** - HSMRK222 - K222TA2 - SFD - Tissue Inhibitor of Metalloproteinase 3 (Sorsby Fundus Dystrophy, Pseudoinflammatory) wt Allele