C190404Level 6
AK1 wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human AK1 wild-type allele is located in the vicinity of 9q34.11 and is approximately 13 kb in length. This allele, which encodes adenylate kinase isoenzyme 1 protein, is involved in energy metabolism and homeostasis of cellular adenine nucleotide. Loss of function mutations in the gene are associated with hemolytic anemia due to adenylate kinase deficiency.
**Synonyms:** - Adenylate Kinase 1 wt Allele - Adenylate Kinase, Soluble Gene - HTL-S-58j
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