TMPRSS6 wt Allele

Preferred Label : TMPRSS6 wt Allele;

NCIt synonyms : Transmembrane Protease, Serine 6 Gene; FLJ30744; IRIDA; UNQ354/PRO618; Transmembrane Serine Protease 6 wt Allele; MT2;

NCIt definition : Human TMPRSS6 wild-type allele is located in the vicinity of 22q12.3 and is approximately 45 kb in length. This allele, which encodes transmembrane protease serine 6 protein, plays a role in processing hemojuvelin, type I collagen, fibronectin and fibrinogen. Mutation of the gene is associated with iron-refractory iron deficiency anemia.;

NCI Metathesaurus CUI : CL1662635;

GenBank Accession Number : AY055383;

Details

Origin ID

C179919;

UMLS CUI

C5551131;

Automatic exact mappings (from CISMeF team)
- Iron-refractory iron deficiency anemia [OMIM Phenotype]
- Melatonin receptor 1b [OMIM gene]
- Metallothionein 2a [OMIM gene]
- methanol-specific methylcobalamin:coenzyme M methyltransferase activity [GO term]
- transmembrane serine protease 6 [ORDO Gene]
OMIM relation
- Transmembrane protease, serine 6 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_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) :

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