HMBS recombinant protein

HMBS, 1-361aa, Human, His tag, E Coli

Cat. Num. AAA204406

• Gene Names: HMBS; UPS; PBGD; PORC; PBG-D
• Applications: SDS-Page
• Purity: > 95% by SDS-PAGE
• Synonyms: HMBS; 1-361aa; Human; His tag; E Coli; Porphobilinogen deaminase; PBG-D; PBGD; PORC; uPS; HMBS recombinant protein

• Host: E Coli
• Purity/Purification: > 95% by SDS-PAGE
• Form/Format: Liquid. In 20mM Tris-HCl Buffer (pH 8.0) containing 1mM DTT, 10% glycerol, 0.1M NaCl
• Concentration: 1 mg/ml (determined by Bradford assay) (varies by lot)
• 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
• Sequence Length: 361

• Applicable Applications for HMBS recombinant protein: SDS-PAGE
• Antigen Species: Human
• Tag Information: His-tag
• Preparation and Storage: Can be stored at 4 degree C short term (1-2 weeks).; For long term storage, aliquot and store at -20 degree C or -70 degree C.; Avoid repeated freezing and thawing cycles.

SDS-Page

Related Product Information for HMBS recombinant 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 Categories/Family for HMBS recombinant protein

Metabolism

References

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

NCBI and Uniprot Product Information

• NCBI GI #: 20149500
• NCBI GeneID: 3145
• NCBI Accession #: NP_000181
• NCBI GenBank Nucleotide #: NM_000190.3
• UniProt Accession #: P08397; P08396; Q16012; A8K2L0; G3V1P4; G5EA58
• Molecular Weight: 41.9kDa (385aa) confirmed by MALDI-TOF
• NCBI Official Full Name: porphobilinogen deaminase isoform 1
• NCBI Official Synonym Full Names: hydroxymethylbilane synthase
• NCBI Official Symbol: HMBS
• NCBI Official Synonym Symbols: UPS; PBGD; PORC; PBG-D
• NCBI Protein Information: porphobilinogen deaminase
• UniProt Protein Name: Porphobilinogen deaminase
• UniProt Gene Name: HMBS
• UniProt Synonym Gene Names: PBGD; UPS; PBG-D; HMBS

NCBI Description

This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded 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. [provided by RefSeq, Jul 2008]

Uniprot Description

Tetrapolymerization of the monopyrrole PBG into the hydroxymethylbilane pre-uroporphyrinogen in several discrete steps.