homogentisate 1,2-dioxygenase (homogentisicase, homogentisate oxygenase, homogentisic acid oxidase)

Function

• amino-acid degradation, L-phenylalanine degradation
• acetoacetate & fumarate from L-phenylalanine: step 4/6

homogentisate + O2 <--> 4-maleylacetoacetate

Cofactor: iron

Structure

belongs to the homogentisate dioxygenase family

Expression

• highest expression in the prostate, small intestine, colon, kidney & liver

Pathology

• defects in HGD are the cause of alkaptonuria

Laboratory

• HGD gene mutation

More general terms

• dioxygenase
• metalloprotein

Additional terms

• alkaptonuria

Database

• OMIM: https://mirror.omim.org/entry/607474
• OMIM: https://mirror.omim.org/entry/203500
• UniProt: http://www.uniprot.org/uniprot/Q93099.html