TRPM6 wt Allele

Preferred Label : TRPM6 wt Allele;

NCIt synonyms : HOMG1; HMGX; Hypomagnesemia, Secondary Hypocalcemia Gene; FLJ22628; Transient Receptor Potential Cation Channel, Subfamily M, Member 6 Gene; Transient Receptor Potential Cation Channel Subfamily M Member 6 wt Allele; HSH; HOMG; CHAK2;

NCIt definition : Human TRPM6 wild-type allele is located in the vicinity of 9q21.13 and is approximately 166 kb in length. This allele, which encodes transient receptor potential cation channel subfamily M member 6 protein, is involved in both magnesium homeostasis and protein phosphorylation. Mutation of the gene is associated with hypomagnesemia.;

NCI Metathesaurus CUI : CL545113;

GenBank Accession Number : AK026281;

Details

Origin ID

C147083;

UMLS CUI

C4552878;

Automatic exact mappings (from CISMeF team)
- Hypomagnesaemia due to selective magnesium malabsorption [ICD-11 More detail]
- Hypomagnesemia 1, intestinal [OMIM Phenotype]
- Primary hypomagnesemia with secondary hypocalcemia [ORDO Disease]
- Transient receptor potential cation channel, subfamily M, member 6 [OMIM gene]
- hypomagnesemia primary [MeSH Supplementary Concept]
- intestinal hypomagnesemia 1 [DO Concept]
- primary hypomagnesemia [DO Concept]
- transient receptor potential cation channel subfamily M member 6 [ORDO Gene]
OMIM relation
- Transient receptor potential cation channel, subfamily M, member 6 [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
- Homeostatic Process [NCIt concept]
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Serine/Threonine Phosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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