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The antibody detects endogenous levels of total HGD protein.
This gene encodes the enzyme homogentisate 1,2 dioxygenase. This enzyme is involved in the catabolism of the amino acids tyrosine and phenylalanine. Mutations in this gene are the cause of the autosomal recessive metabolism disorder alkaptonuria.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Homogentisate 1,2-dioxygenase; homogentisate oxidase; Homogentisate oxygenase; Homogentisic acid oxidase; Homogentisicase
基因别名: AKU; HGD; HGO
UniProt ID: (Human) Q93099
Entrez Gene ID: (Human) 3081
分子生物学功能: oxidoreductase oxygenase metabolite interconversion enzyme