TIMP3 wt Allele

Preferred Label : TIMP3 wt Allele;

NCIt synonyms : Tissue Inhibitor of Metalloproteinase 3 (Sorsby Fundus Dystrophy, Pseudoinflammatory) wt Allele; HSMRK222; K222TA2; SFD;

NCIt 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.;

NCIt note : Gene_Has_Function: Metalloproteinase Inhibition, Connective Tissue Remodeling; Gene_Associated_With_Disease: Sorsby Fundus Dystrophy; Gene_Belongs_To_Family: TIMP Family;

GenBank Accession Number : NM_000362;

Details

Origin ID

C52121;

UMLS CUI

C1710298;

OMIM relation
- Tissue inhibitor of metalloproteinase 3 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 22q12.1-q13.2 [NCIt concept]
gene_is_element_in_pathway
- Inhibition of Matrix Metalloproteinases Pathway [NCIt concept]
- p53 Signaling Pathway BioCarta [NCIt concept]
gene_plays_role_in_process
- Angiogenic Process [NCIt concept]
- Enzyme Inhibition [NCIt concept]
- Regulation of Proteolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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