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Literature summary for 1.13.11.5 extracted from
- Expression of tyrosine pathway enzymes in mice demonstrates that homogentisate 1,2-dioxygenase deficiency in the liver is responsible for homogentisic acid-derived ochronotic pigmentation (2021), JIMD Rep., 58, 52-60 .
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Mus musculus | O09173 | - |
- |
Source Tissue
| Source Tissue | Comment | Organism | Textmining |
|---|---|---|---|
| kidney | - |
Mus musculus | - |
| liver | liver has the highest expression of Hgd. Homogentisate 1,2-dioxygenase deficiency in the liver is responsible for homogentisic acid derived ochronotic pigmentation | Mus musculus | - |
| additional information | not detected in cartilage or brain | Mus musculus | - |
| testis | low level expression within developing male germ cells within the testis and epididymis in Hgd tm1a -/- | Mus musculus | - |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| HgD | - |
Mus musculus |
General Information
| General Information | Comment | Organism |
|---|---|---|
| malfunction | alkaptonuria is caused by homogentisate 1,2-dioxygenase deficiency. Homogentisate 1,2-dioxygenase deficiency in the liver is responsible for homogentisic acid derived ochronotic pigmentation | Mus musculus |
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Release 2023.1 (January 2023)
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