C218453Level 5
HGD wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human HGD wild-type allele is located in the vicinity of 3q13.33 and is approximately 54 kb in length. This allele, which encodes homogentisate 1,2-dioxygenase protein, is involved in phenylalanine and tyrosine catabolism. Mutations in the gene are associated with alkaptonuria.
**Synonyms:** - AKU - HGO - Homogentisate 1,2-Dioxygenase (Homogentisate Oxidase) Gene - Homogentisate 1,2-Dioxygenase wt Allele - Homogentisate Oxidase Gene
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Cross-system equivalences0
No cross-system equivalences mapped for this node.