Porphobilinogen deaminase

• Cat.No.: CBCRY24

Specification

• 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
• PDB ID: 3ECR
• 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 Information

• Gene Name: HMBS
• Synonyms: PBG-D; PBGD; UPS; porphobilinogen deaminase; pre-uroporphyrinogen synthase; uroporphyrinogen I synthase; uroporphyrinogen I synthetase; EC 2.5.1.61; hydroxymethylbilane synthase
• UniProt ID: P08397
• Gene ID: 3145
• Chromosome Location: 11q23.3
• Function: hydroxymethylbilane synthase activity; transferase activity