TRPM7 wt Allele

Preferred Label : TRPM7 wt Allele;

NCIt synonyms : FLJ20117; Transient Receptor Potential-Phospholipase C-Interacting Kinase Gene; FLJ25718; CHAK1; Transient Receptor Potential Cation Channel Subfamily M Member 7 wt Allele; CHAK; LTRPC7; TRP-PLIK; Transient Receptor Potential Cation Channel, Subfamily M, Member 7 Gene; ALSPDC;

NCIt definition : Human TRPM7 wild-type allele is located in the vicinity of 15q21 and is approximately 130 kb in length. This allele, which encodes transient receptor potential cation channel subfamily M member 7 protein, is involved in the mediation of both protein phosphorylation and ion transport. Mutation of the gene is associated with amyotrophic lateral sclerosis-parkinsonism/dementia complex type 1. A chromosomal rearrangement of this gene and the CYP19A1 gene is associated with aromatase excess syndrome.;

GenBank Accession Number : AF346629;

Details

Origin ID

C98059;

UMLS CUI

C3273791;

OMIM relation
- Transient receptor potential cation channel, subfamily M, member 7 [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
- 15q21 [NCIt concept]
gene_is_element_in_pathway
- NOD-Like Receptor Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Regulation of Cell Death 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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