HGD
HGD (homogentisate 1,2-dioxygenase, also known as HGO or AKU) is an oxygenase that catalyses the conversion of homogentisate to maleylacetoacetate. It acts in the breakdown of the amino acids tyrosine and phenylalanine. Browse Assay Genie's current range of HGD research reagents below, or read on for the biology behind the target.
HGD encodes homogentisate 1,2-dioxygenase, an enzyme that catalyses the conversion of homogentisate to maleylacetoacetate. This reaction is a step in the catabolism of the amino acids tyrosine and phenylalanine. The enzyme is classified under EC 1.13.11.5 and belongs to the homogentisate dioxygenase family.
The HGD gene is assigned by HGNC to the oxygenases gene group. The human protein is encoded on chromosome 3 and has a mouse ortholog, Hgd, which is relevant for researchers who study this pathway in rodent models. UniProt does not currently annotate a subcellular location for the protein, so localisation should be established experimentally for the system under study.
The gene has also been known as HGO and AKU, and its earlier name was homogentisate 1,2-dioxygenase (homogentisate oxidase). The AKU alias reflects the disease association: mutations in the HGD gene cause alkaptonuria, an autosomal recessive disorder of metabolism. This makes HGD a reference point for work on inherited disorders of amino acid catabolism, and on the biochemistry of the tyrosine degradation pathway more broadly.
Mutations in the HGD gene cause alkaptonuria, an autosomal recessive metabolic disorder, so the protein is central to studies of the disease.
HGD acts in the breakdown of tyrosine and phenylalanine, making it a key enzyme for studying amino acid degradation.
As a member of the homogentisate dioxygenase family and the oxygenases group, HGD is a subject for studies of dioxygenase catalysis.
HGD provides a defined genotype-to-phenotype example of an autosomal recessive disorder of metabolism for comparative and model-based studies.
HGD, or homogentisate 1,2-dioxygenase, catalyses the conversion of homogentisate to maleylacetoacetate. This reaction forms part of the catabolism of the amino acids tyrosine and phenylalanine. It is an oxygenase classified as EC 1.13.11.5 and belongs to the homogentisate dioxygenase family.
HGD is also known by the aliases HGO and AKU, and the earlier HGNC name was homogentisate 1,2-dioxygenase (homogentisate oxidase). The AKU alias refers to alkaptonuria, the disorder caused by mutations in the gene. Check the datasheet of any product for its validated reactivity.
Yes. Mutations in the HGD gene cause alkaptonuria, an autosomal recessive disorder of metabolism. A mouse ortholog, Hgd, exists, which allows the pathway to be studied in mouse systems. No rat ortholog is specified in the data supplied here.
Other enzymes of amino acid catabolism and oxygenases with research reagents at Assay Genie.
Gene and protein annotations from HGNC, NCBI Gene and UniProt Q93099; product specifications from Assay Genie datasheets.