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Literature summary for 2.5.1.61 extracted from

  • Yang, C.C.; Kuo, H.C.; You, H.L.; Wang, J.; Huang, C.C.; Liu, C.Y.; Lan, M.Y.; Stephenson, D.A.; Lee, M.J.
    HMBS mutations in Chinese patients with acute intermittent porphyria (2008), Ann. Hum. Genet., 72, 683-686.
    View publication on PubMed

Application

Application Comment Organism
medicine acute intermittent porphyria is caused by partial deficiency of hydroxymethylbilane synthase affecting heme biosynthesis Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
leukocyte
-
Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
4 porphobilinogen + H2O
-
Homo sapiens hydroxylmethylbilane + 4 NH3
-
?

Synonyms

Synonyms Comment Organism
HMBS
-
Homo sapiens