Overview

Description

  • NatureRecombinant
  • SourceE. coli
  • Amino Acid Sequence
    • AccessionP08397
    • SpeciesHuman
    • SequenceMGSSHHHHHH 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
    • Molecular weight42 kDa including tags
    • Amino acids1 to 361
    • TagsHis tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab123176 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    Mass Spectrometry

    SDS-PAGE

  • Mass spectrometry
    MALDI-TOF
  • Purity> 95 % by SDS-PAGE.
    ab123176 is purified using conventional chromatography techniques.
  • FormLiquid
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.02% DTT, 0.32% Tris HCl, 10% Glycerol, 0.58% Sodium chloride

General info

  • Alternative names
    • HEM3_HUMAN
    • HMBS
    • Hydroxymethylbilane synthase
    • PBG D
    • PBG-D
    • PBGD
    • Porphobilinogen deaminase
    • Pre uroporphyrinogen synthase
    • Pre-uroporphyrinogen synthase
    • UPS
    • Uroporphyrinogen I synthase
    • Uroporphyrinogen I synthetase
    see all
  • FunctionTetrapolymerization of the monopyrrole PBG into the hydroxymethylbilane pre-uroporphyrinogen in several discrete steps.
  • Tissue specificityIsoform 1 is ubiquitously expressed. Isoform 2 is found only in erythroid cells.
  • PathwayPorphyrin metabolism; protoporphyrin-IX biosynthesis; coproporphyrinogen-III from 5-aminolevulinate: step 2/4.
  • Involvement in diseaseDefects in HMBS are the cause of acute intermittent porphyria (AIP) [MIM:176000]. AIP is a form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. AIP is an autosomal dominant form of hepatic porphyria characterized by acute attacks of neurological dysfunctions with abdominal pain, hypertension, tachycardia, and peripheral neuropathy. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors.
  • Sequence similaritiesBelongs to the HMBS family.
  • Cellular localizationCytoplasm.
  • Target information above from: UniProt accession P08397 The UniProt Consortium
    The Universal Protein Resource (UniProt) in 2010
    Nucleic Acids Res. 38:D142-D148 (2010) .

    Information by UniProt

Human HMBS full length protein images

  • 15% SDS-PAGE analysis of ab123176 (3ug)

References for Human HMBS full length protein (ab123176)

ab123176 has not yet been referenced specifically in any publications.

Product Wall

There are currently no Abreviews or Questions for ab123176.
Please use the links above to contact us or submit feedback about this product.

Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"