Porphobilinogen deaminase CBCRY24

Porphobilinogen deaminase


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Porphobilinogen deaminase

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Cat. No. : CBCRY24
Background : The protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described.
Protein Classification : Transferase
Structure Weight : 80152.23 Da
Polymer : 1
Molecule : Porphobilinogen deaminase
Chain Length : 364 amino acids
MMDB ID : 67075
Source : E.coli
Method : X-Ray Diffraction
Resolution : 2.18Å
Ligand Chemical Component : DPM
Reference : Song, G., Li, Y., Cheng, C., Zhao, Y., Gao, A., Zhang, R., Joachimiak, A., Shaw, N., Liu, Z.J. (2009) Structural insight into acute intermittent porphyria. Faseb J. 23: 396-404
Gene Name : HMBS
Synonyms : PBG-D; PBGD; UPS; porphobilinogen deaminase; pre-uroporphyrinogen synthase; uroporphyrinogen I synthase; uroporphyrinogen I synthetase; EC; hydroxymethylbilane synthase
UniProt ID : P08397
Gene ID : 3145
Chromosome Location : 11q23.3
Function : hydroxymethylbilane synthase activity; transferase activity

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