Transmembrane Protease Serine 6

Preferred Label : Transmembrane Protease Serine 6;

NCIt synonyms : Type II Transmembrane Serine Protease 6; EC 3.4.21.-; TMPRSS6; Matriptase-2; Transmembrane Serine Protease 6; Membrane-Bound Mosaic Serine Proteinase Matriptase-2; Matriptase 2;

NCIt definition : Transmembrane protease serine 6 (811 aa, 90 kDa) is encoded by the human TMPRSS6 gene. This protein is involved in the hydrolysis of hemojuvelin and matrix proteins, such as type I collagen, fibronectin and fibrinogen.;

Details

Origin ID

C179920;

UMLS CUI

C1609944;

Automatic exact mappings (from CISMeF team)
- Transmembrane protease, serine 6 [OMIM gene]
- matriptase 2 [MeSH Supplementary Concept]
- matriptase 2 [MeSH concept]
- transmembrane serine protease 6 [HGNC gene]
- transmembrane serine protease 6 [ORDO Gene]
OMIM relation
- Transmembrane protease, serine 6 [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Enzyme [UMLS semantic type]
UMLS correspondences (same concept)
- TMPRSS6 protein, human [MeSH Supplementary Concept]
- TMPRSS6 protein, human [MeSH concept]
gene_encodes_gene_product
- Enzyme Gene [NCIt concept]
- Hydrolase Gene [NCIt concept]
- Peptidase Gene [NCIt concept]
- TMPRSS6 Gene [NCIt concept]
gene_product_expressed_in_tissue
- Liver [NCIt concept]
gene_product_has_associated_anatomy
- Plasma Membrane [NCIt concept]
gene_product_has_structural_domain_or_motif
- Protease Domain [NCIt concept]
- Substrate Interaction Domain [NCIt concept]
- Transmembrane Domain [NCIt concept]
gene_product_plays_role_in_biological_process
- Extracellular Matrix Degradation [NCIt concept]
- Homeostatic Process [NCIt concept]
- Hydrolysis [NCIt concept]
- Proteolysis [NCIt concept]
- Proteolytic Processing [NCIt concept]
- Regulation of Proteolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients