HGD Antibody / Homogentisate 1,2-dioxygenase

The HGD gene encodes homogentisate 1,2-dioxygenase, an enzyme involved in the catabolism of phenylalanine and tyrosine. 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. This gene is mapped to chromosome 3q21-q23 by a preliminary PCR screen of hamster/human somatic cell hybrid genomic DNA samples and by fluorescence in situ hybridization.