TIMP3 wt Allele
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TIMP3 wt Allele 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.
TIMP3 wt Allele Synonyms
TIMP3 wt Allele, HSMRK222, K222TA2, SFD, Tissue Inhibitor of Metalloproteinase 3 (Sorsby Fundus Dystrophy, Pseudoinflammatory) wt Allele
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