Recombinant human HMBS protein

Porphobilinogen deaminase, also known as HMBS, is a member of the hydroxymethylbilane synthase superfamily. It is a cytoplasmic enzyme found in the heme synthesis pathway. Deficiency of HMBS causes errors in pyrrole metabolism which in turn leads to an inherited autosomal disorder called acute intermittent porphyria (AIP) which is characterized by acute attacks of neurological dysfunctions with hypertension, tachycardia, peripheral neurologic disturbances, abdominal pain and excessive amounts of aminolevulinic acid and porphobilinogen in the urine. Recombinant human HMBS protein, fused to His-tag at N-terminus, was expressed in E. coli and purified by using conventional chromatography techniques.

Product Specifications

Product Name Alternative

Porphobilinogen deaminase, PBG-D, PBGD, PORC, uPS

Expression System

E.coli

Antigen Species

Human

Tag

His-Tag

Applications

SDS-PAGE

Concentration

1 mg/mL (determined by Bradford assay)

Purity

> 95% by SDS-PAGE

Molecular Weight

41.9 kDa (385aa) confirmed by MALDI-TOF

Additionnal Information

HMBS, Porphobilinogen deaminase, PBG-D, PBGD, PORC, uPS, ATGP1433-10 µg, ATGP1433-20 µg, ATGP1433-50 µg, ATGP1433-100 µg, ATGP1433-250 µg, ATGP1433-500 µg, ATGP1433-1 mg, ATGP1433-10, ATGP1433-20, ATGP1433-50, ATGP1433-100, ATGP1433-250, ATGP1433-500, ATGP1433-1

References & Citations

Schneider Yin X., et al. (2004) J Inherit Metab Dis. 625-631:471-474.; ; Sheppard L., et al. (1995) Paediatr Anaesth. 15:426-428.;

Storage Conditions

Can be stored at 2°C to 8°C for 1 week. For long term storage, aliquot and store at -20C to -80C. Avoid repeated freezing and thawing cycles.

Formulation

Liquid in. 20 mM Tris-HCl buffer (pH 8.0) containing 1mM DTT, 10% glycerol, 0.1M NaCl

Scientific Category

Metabolism

NCBI Accession Number

NP_000181

Uniprot Accession Number

P08397

Species

Human

AA Sequence

MGSSHHHHHH SSGLVPRGSH MGSHMSGNGN AAATAEENSP KMRVIRVGTR KSQLARIQTD SVVATLKASY PGLQFEIIAM STTGDKILDT ALSKIGEKSL FTKELEHALE KNEVDLVVHS LKDLPTVLPP GFTIGAICKR ENPHDAVVFH PKFVGKTLET LPEKSVVGTS SLRRAAQLQR KFPHLEFRSI RGNLNTRLRK LDEQQEFSAI ILATAGLQRM GWHNRVGQIL HPEECMYAVG QGALGVEVRA KDQDILDLVG VLHDPETLLR CIAERAFLRH LEGGCSVPVA VHTAMKDGQL YLTGGVWSLD GSDSIQETMQ ATIHVPAQHE DGPEDDPQLV GITARNIPRG PQLAAQNLGI SLANLLLSKG AKNILDVARQ LNDAH