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Recombinant human HMBS protein

CAT: 0112-ATGP1433-100Size: 100 µgDry Ice: NoHazardous: No
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CAT#:0112-ATGP1433-100Size:100 µg
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Description
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 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

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