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)
Chromosomate11 locatum
Chromosomate 11 locatum
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 recensere

Genum enzymi porphobilinogeni deaminasis, HMBS2 nominatum, in hominibus in chromosomate 11 invenitur.

Nexus interni

Notae recensere

  1. 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 
 

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