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.

Molecular description

Protein Classification

Transferase

Structure Weight

80152.23 Da

Polymer

1

Molecule

Porphobilinogen deaminase

Chain Length

364 amino acids

Crystal Description

PDB ID

3ECR

MMDB ID

67075

Source

E.coli

Method

X-Ray Diffraction

Resolution

2.18Å

Ligand Chemical Component

DPM

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

GeneID

3145

Chromosome  Location

11q23.3

Function

hydroxymethylbilane synthase activity; transferase activity

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