HAMP wt Allele

Preferred Label : HAMP wt Allele;

NCIt synonyms : HFE2B; LEAP1; PLTR; Hepcidin Antimicrobial Peptide wt Allele; HEPC; LEAP-1;

NCIt definition : Human HAMP wild-type allele is located in the vicinity of 19q13.1 and is approximately 3 kb in length. This allele, which encodes hepcidin protein, plays a role in both antimicrobial activity and iron homeostasis. Mutation of the gene is associated with hemochromatosis type 2B.;

GenBank Accession Number : AF309489;

Details

Origin ID

C104272;

UMLS CUI

C3541263;

Automatic exact mappings (from CISMeF team)
- Hemochromatosis, type 2b [OMIM Phenotype]
- Hepcidin antimicrobial peptide [OMIM gene]
- Liver [LOINC System]
- Liver [LOINC System]
- Liver [LOINC component]
- hepcidin antimicrobial peptide [ORDO Gene]
- liver [MeSH Descriptor]
OMIM relation
- Hepcidin antimicrobial peptide [OMIM gene]
See also inter- (CISMeF)
- hemochromatosis type 2B [DO Concept]
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
- 19q13.1 [NCIt concept]
gene_plays_role_in_process
- Antibacterial Response [NCIt concept]
- Immune System Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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