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XB-GENEPAGE-943549
Gene Symbol: hmbs.2
Gene Name: hydroxymethylbilane synthase, gene 2
Synonyms:
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Gene Function: Porphobilinogen deaminase Protein Function
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Tetrapolymerization of the monopyrrole PBG into the hydroxymethylbilane pre-uroporphyrinogen in several discrete steps.
InterPro
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Diseases: Disease Ontology: acute intermittent porphyria
OMIM:
PORPHYRIA, ACUTE INTERMITTENT; AIP
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Expression | Development Stages Embryonic Tissues Adult Tissues | |||||||||||
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