1.13.11.5: homogentisate 1,2-dioxygenase
This is an abbreviated version!
For detailed information about homogentisate 1,2-dioxygenase, go to the full flat file.
Word Map on EC 1.13.11.5
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1.13.11.5
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alkaptonuria
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ochronosis
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urine
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joint
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cartilage
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arthropathy
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sclera
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nitisinone
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arthroplasty
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discoloration
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darken
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maleylacetoacetate
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melanin-like
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calculi
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pyomelanin
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ultra-rare
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4-hydroxyphenylpyruvate
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slovakia
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medicine
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ntbc
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diagnostics
- 1.13.11.5
- alkaptonuria
-
ochronosis
- urine
- joint
- cartilage
- arthropathy
- sclera
- nitisinone
-
arthroplasty
-
discoloration
-
darken
- maleylacetoacetate
-
melanin-like
-
calculi
-
pyomelanin
-
ultra-rare
- 4-hydroxyphenylpyruvate
-
slovakia
- medicine
- ntbc
- diagnostics
Reaction
Synonyms
EC 1.13.1.5, EC 1.99.2.5, ElHDO, HgD, HGDO, HGO, HGOa, HGOb, HmgA, homogentisate 1,2 dioxigenase, homogentisate 1,2 dioxygenase, homogentisate 1,2-dioxygenase, homogentisate dioxygenase, homogentisate oxidase, homogentisate oxygenase, homogentisate phytyl-transferase, homogentisic acid 1,2-dioxygenase, homogentisic acid oxidase, homogentisic acid oxygenase, homogentisic oxygenase, homogentisicase, HPT, HTO
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Application on EC 1.13.11.5 - homogentisate 1,2-dioxygenase
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diagnostics
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crude enzyme preparations can be used for a spectrophotometric method for routine, sensitive determination of homogentisate in human urine
medicine
medicine
alkaptonuria: rare hereditary disorder of the phenylalanine catabolism, patients are deficient in homogentisate 1,2-dioxygenase and carry two copies of a loss-of-function allele of HGO gene, disease causes homogentisic aciduria, ochronosis and arthritis
medicine
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HGO deficiency causes alkaptonuria, inherited as a recessive Mendelian trait, HGO inhibitors may be useful in the treatment of hereditary tyrosinemia type I, HT1
medicine
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inactivation of enzyme in kidney and liver causes the basic defect of alkaptonuria
medicine
missense mutation in exon 13 (G360R) and exon 3 (K57N) affecting homogentisate 1,2-dioxygenase function by interfering with substrate traffic at active site causing alkaptonuria, a rare recessive phanylalanine/tyrosine metabolism disorder