Entity Details

Primary name HGD
Entity type gene
Source Source Link

Details

PrimaryID3081
RefseqGeneNG_011957
SymbolHGD
Namehomogentisate 1,2-dioxygenase
Chromosome3
Location3q13.33
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-17
ModificationDate2021-06-20

Ontological Relatives

UniProt IDsHGD_HUMAN

GO terms

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GOName
GO:0004411 homogentisate 1,2-dioxygenase activity
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0006559 L-phenylalanine catabolic process
GO:0006572 tyrosine catabolic process
GO:0042802 identical protein binding
GO:0046872 metal ion binding
GO:0070062 extracellular exosome

Diseases

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Disease IDSourceNameDescription
203500 OMIMAlkaptonuria (AKU)An autosomal recessive error of metabolism characterized by an increase in the level of homogentisic acid. The clinical manifestations are urine that turns dark on standing and alkalinization, black ochronotic pigmentation of cartilage and collagenous tissues, and spine arthritis. The disease is caused by variants affecting the gene represented in this entry.

Interactions

6 interactions

InteractorPartnerSourcesPublicationsLink
HGDCLDN7BioGRID, IntAct21988832 details
HGDPCDHGC3BioGRID, IntAct21988832 details
HGDGIT2BioGRID, IntAct21988832 details
HGDHGDBioGRID, HPRD, IntAct10876237 25416956 32296183 details
HGDTERF1bhf-ucl, BioGRID21044950 details
HGDNTAQ1BioGRID, IntAct32296183 details