NP_038575.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
49,960 Da
NCBI Official Full Name
homogentisate 1,2-dioxygenase
NCBI Official Synonym Full Names
homogentisate 1, 2-dioxygenase
NCBI Official Synonym Symbols
NCBI Protein Information
homogentisate 1,2-dioxygenase
UniProt Protein Name
Homogentisate 1,2-dioxygenase
UniProt Synonym Protein Names
Homogentisate oxygenase; Homogentisic acid oxidase; Homogentisicase
UniProt Synonym Gene Names
UniProt Comments for HGD
HGD: Defects in HGD are the cause of alkaptonuria (AKU). AKU is an autosomal recessive error of metabolism characterized by an increase in the level of homogentisic acid. The clinical manifestations of AKU are urine that turns dark on standing and alkalinization, black ochronotic pigmentation of cartilage and collagenous tissues, and spine arthritis. Belongs to the homogentisate dioxygenase family.
Protein type: Amino Acid Metabolism - tyrosine; EC 1.13.11.5; Oxidoreductase
Chromosomal Location of Human Ortholog: 16 B3|16 26.4 cM
Molecular Function: dioxygenase activity; homogentisate 1,2-dioxygenase activity; identical protein binding; metal ion binding; oxidoreductase activity
Biological Process: amino acid metabolic process; L-phenylalanine catabolic process; tyrosine catabolic process; tyrosine metabolic process
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Products associated with anti-HGD antibody
Pathways associated with anti-HGD antibody
Diseases associated with anti-HGD antibody
Organs/Tissues associated with anti-HGD antibody
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