MAGT1 wt Allele

Preferred Label : MAGT1 wt Allele;

NCIt synonyms : MRX95; PRO0756; IAP; Oligosaccharyltransferase 3 Homolog B (S. cerevisiae) Gene; Magnesium Transporter 1 wt Allele; UNQ628/PRO1244; bA217H1.1; Oligosaccharyltransferase 3 Homolog B Gene; XMEN; OST3B; DKFZp564K142;

NCIt definition : Human MAGT1 wild-type allele is located in the vicinity of Xq21.1 and is approximately 69 kb in length. This allele, which encodes magnesium transporter protein 1, plays a role in magnesium ion transport and protein modification. Mutation of the gene is associated with X-linked intellectual disabilities and X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia.;

NCI Metathesaurus CUI : CL937233;

GenBank Accession Number : NM_032121;

Details

Origin ID

C157562;

UMLS CUI

C4761471;

Automatic exact mappings (from CISMeF team)
- Alkaline phosphatase, intestinal [OMIM gene]
- Cd47 antigen [OMIM gene]
- Immunodeficiency, X-linked, with magnesium defect, epstein-barr virus infection, and neoplasia [OMIM Phenotype]
- Intellectual developmental disorder, X-linked 95 [OMIM Phenotype]
- Islet amyloid polypeptide [OMIM gene]
- Magnesium transporter 1 [OMIM gene]
- X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia [ORDO Disease]
- X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia [DO Concept]
- magnesium transporter 1 [ORDO Gene]
- plasminogen inactivators [MeSH Descriptor]
OMIM relation
- Magnesium transporter 1 [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_plays_role_in_process
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Protein Glycosylation [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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