Entrez Summary: This gene encodes the enzyme homogentisate 1,2 dioxygenase. 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.[provided by RefSeq, May 2010].
UniProt Summary: N/A
Pfam DomainsGO Terms
Pfam Domains
HgmA
GO Terms
homogentisate 1,2-dioxygenase activity
tyrosine catabolic process
tyrosine metabolic process
erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process
L-phenylalanine metabolic process
L-phenylalanine catabolic process
erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process
aromatic amino acid family catabolic process
aromatic amino acid family metabolic process
alpha-amino acid catabolic process
cellular amino acid catabolic process
drug catabolic process
alpha-amino acid metabolic process
carboxylic acid catabolic process
organic acid catabolic process
cellular amino acid metabolic process
small molecule catabolic process
aromatic compound catabolic process
organic cyclic compound catabolic process
drug metabolic process
carboxylic acid metabolic process
oxidation-reduction process
oxoacid metabolic process
organic acid metabolic process
organonitrogen compound catabolic process
identical protein binding
small molecule metabolic process
organic substance catabolic process
cellular catabolic process
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)