Porphobilinogeni deaminasis

E Vicipaedia
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 | fontem recensere]

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

Nexus interni

Notae[recensere | fontem 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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