HGD Recombinant Rabbit Monoclonal Antibody [JE58-85]

Function

Homegentisate 1,2 dioxygenase is involved in a type of metabolic diseases, called alkaptonuria. This disorder is due to the inability of the body to deal with homogentisate, which when oxidized by the body will produce the compound known as the ochronotic pigment, which causes a black color, and has several negative effects. This first of these effects is that the patient’s earwax will begin to turn black or red, depends on the patient’s diet, since the blood becomes oxidized and thus turns black due to excess of the ochronotic pigment. The other effect of the ochronotic pigment is that it can accumulate in the body’s connective tissue leading to degenerative arthritis, as the person grows older. Alkaptonuria has another effect in that it can cause the urine to turn black as well if let to sit for long enough to become oxidized, though is this often a method for testing for the genetic defect. The metabolic disease is autosomal recessive, such that both parents must pass the gene on to their children in order for child to have the defect.

Background References

1. Duan G et al. HGD: an integrated homologous gene database across multiple species. Nucleic Acids Res. 2023 Jan

2. Abdelkhalek ZS et al. Homogentisate 1,2-dioxygenase (HGD) gene variants in young Egyptian patients with alkaptonuria. Sci Rep. 2023 Sep

Subcellular Location

Cytosol, extracellular exosome.

UNIPROT

SwissProt: Q93099 Human

Synonyms