C176486Level 6
AK2 wt Allele
**Semantic type:** Gene or Genome
**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.
**Synonyms:** - ADK2 - Adenylate Kinase 2 wt Allele - Adenylate Kinase Isoenzyme 2, Mitochondrial Gene - Adenylate Kinase, Mitochondrial Myokinase Gene
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