Porphobilinogeni deaminasis
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Porphobilinogeni deaminasis HMB S | |||||
---|---|---|---|---|---|
Cognitores | |||||
Alia nomina | HMBS | ||||
Numerus EC | 2.5.1.61 (transferasis) | ||||
Fontes externae | OMIM: 609806 | ||||
Genetica | |||||
Locus geni (homo) | |||||
Locus | 11q23.3 | ||||
Initium | 119 084 866 | ||||
Terminus | 119 093 549 | ||||
Biochemia | |||||
Substratum | Porphobilinogenum |
Porphobilinogeni deaminasis (numerus EC: 2.5.1.61) est enzymum, quod porphobilinogenum in hydroxymethylobilanum convertit.
Enzymum praecipue in cytoplasmate exprimitur.
Mutationes geni enzymi morbum porphyriae intermittentis acutae efficit[1].
Genetica
recensereGenum enzymi porphobilinogeni deaminasis, HMBS2 nominatum, in hominibus in chromosomate 11 invenitur.
Nexus interni
Notae
recensere- ↑ Gill R., Kolstoe S. E., et al. (Apr 2009). "Structure of human porphobilinogen deaminase at 2.8 A: the molecular basis of acute intermittent porphyria". The biochemical journal 420 (1): 17-25