AK2 wt Allele - CISMeF

Preferred Label : AK2 wt Allele;

NCIt synonyms : Adenylate Kinase 2 wt Allele; Adenylate Kinase Isoenzyme 2, Mitochondrial Gene; Adenylate Kinase, Mitochondrial Myokinase Gene; ADK2;

NCIt definition : Human AK2 wild-type allele is located in the vicinity of 1p35.1 and is approximately 73 kb in length. This allele, which encodes adenylate kinase 2, mitochondrial protein, plays a role in cellular energy homeostasis and adenine nucleotide metabolism. Mutation of the gene is associated with reticular dysgenesis.;

NCI Metathesaurus CUI : CL1642393;

GenBank Accession Number : U84371;

Details

Origin ID

C176486;

UMLS CUI

C5445023;

OMIM relation
- Adenylate kinase 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Purine Metabolism Pathway [NCIt concept]
- Thiamine Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Energy Metabolism Process [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]
- Phosphorylation Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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