SERPINA7 wt Allele

Preferred Label : SERPINA7 wt Allele;

NCIt synonyms : Serine (Or Cysteine) Proteinase Inhibitor, Clade A (Alpha-1 Antiproteinase, Antitrypsin), Member 7 Gene; Thyroxine-Binding Globulin of Serum Gene; TBG; Serpin Peptidase Inhibitor, Clade A (Alpha-1 Antiproteinase, Antitrypsin), Member 7 wt Allele; TBG, Serum Gene;

NCIt definition : Human SERPINA7 wild-type allele is located in the vicinity of Xq22.2 and is approximately 6 kb in length. This allele, which encodes thyroxine-binding globulin protein, is involved in thyroid hormone transport. Mutation of the gene is associated with thyroxine-binding globulin deficiency.;

GenBank Accession Number : M14091;

Details

Origin ID

C106004;

UMLS CUI

C3814864;

Automatic exact mappings (from CISMeF team)
- Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 [ORDO Gene]
- TBG [MedDRA LLT]
- Thyroglobulin [MedDRA Preferred Term]
- Thyroxine binding globulin [LOINC component]
- Thyroxine binding globulin (substance) [SNOMED CT concept]
- Thyroxine-binding globulin of serum [OMIM gene]
OMIM relation
- Thyroxine-binding globulin of serum [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
- Xq22.2 [NCIt concept]
gene_plays_role_in_process
- Ligand Binding [NCIt concept]
- Peptide Transport [NCIt concept]
- Transport Process [NCIt concept]

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