Recombinant Human Hydroxymethylbilane Synthase, His-tagged

• Cat.No.: HMBS-1929H
• Product Overview: Recombinant humanHMBS protein, fused to His-tag at N-terminus, was expressed in E. coli andpurified by using conventional chromatography techniques.

Specification

• Species: Human
• Tag: His
• Description: Porphobilinogendeaminase, also known as HMBS, is a member of the hydroxymethylbilanesynthase superfamily. It is a cytoplasmic enzyme found in the heme synthesispathway. Deficiency of HMBS causes errors in pyrrole metabolism which in turnleads to an inherited autosomal disorder called acute intermittent porphyria(AIP) which is characterized by acute attacks of neurological dysfunctionswith hypertension, tachycardia, peripheral neurologic disturbances, abdominalpain and excessive amounts of aminolevulinic acid and porphobilinogen in theurine.
• Form: Liquid. In 20mMTris-HCl buffer (pH 8.0) containing 1mM DTT, 10% glycerol, 0.1M NaCl.
• Molecular Weight: 41.9kDa (385aa)confirmed by MALDI-TOF.
• Purity: >95%by SDS-PAGE
• Concentration: 1 mg/ml(determined by Bradford assay)
• Sequences of aminoacids: MGSSHHHHHHSSGLVPRGSH MGSHMSGNGN AAATAEENSP KMRVIRVGTR KSQLARIQTD SVVATLKASYPGLQFEIIAM STTGDKILDT ALSKIGEKSL FTKELEHALE KNEVDLVVHSLKDLPTVLPP GFTIGAICKR ENPHDAVVFH PKFVGKTLET LPEKSVVGTS SLRRAAQLQR KFPHLEFRSIRGNLNTRLRK LDEQQEFSAI ILATAGLQRM GWHNRVGQIL HPEECMYAVG QGALGVEVRA KDQDILDLVGVLHDPETLLRCIAERAFLRHLEGGCSVPVA VHTAMKDGQL YLTGGVWSLD GSDSIQETMQ ATIHVPAQHE DGPEDDPQLV GITARNIPRGPQLAAQNLGI SLANLLLSKG AKNILDVARQ LNDAH
• Storage: Can be storedat +4°C short term (1-2 weeks). For long term storage, aliquot and store at-20°C or -70°C. Avoid repeated freezing and thawing cycles.
• Pathways: Heme Biosynthesis; Metabolic pathways;Metabolism; Metabolism of porphyrins; Porphyrin and chlorophyll metabolism

Gene Information

• Gene Name: HMBS hydroxymethylbilane synthase[ Homo sapiens ]
• Official Symbol: HMBS
• Synonyms: HMBS; hydroxymethylbilane synthase; UPS;PBGD; PORC; PBG-D; porphobilinogen deaminase; uroporphyrinogen I synthase;pre-uroporphyrinogen synthase; uroporphyrinogen I synthetase; porphyria,acute; Chester type; EC 2.5.1.61
• Gene ID: 3145
• mRNA Refseq: NM_000190
• Protein Refseq: NP_000181
• MIM: 609806
• UniProt ID: P08397
• Chromosome Location: 11q23.3
• Function: hydroxymethylbilane synthase activity;transferase activity