Recombinant Human Homogentisate 1,2-dioxygenase (HGD)

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Code CSB-EP842354HU
Size US$306
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  • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.

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Product Details

Purity
Greater than 85% as determined by SDS-PAGE.
Target Names
HGD
Uniprot No.
Research Area
Metabolism
Alternative Names
2-dioxygenase; AKU; FLJ94126; hgd; HGD_HUMAN; HGO; Homogentisate 1 2 dioxygenase; Homogentisate 1; Homogentisate oxidase; Homogentisate oxygenase; Homogentisic acid oxidase; Homogentisicase
Species
Homo sapiens (Human)
Source
E.coli
Expression Region
1-445aa
Target Protein Sequence
MAELKYISGFGNECSSEDPRCPGSLPEGQNNPQVCPYNLYAEQLSGSAFTCPRSTNKRSWLYRILPSVSHKPFESIDEGQVTHNWDEVDPDPNQLRWKPFEIPKASQKKVDFVSGLHTLCGAGDIKSNNGLAIHIFLCNTSMENRCFYNSDGDFLIVPQKGNLLIYTEFGKMLVQPNEICVIQRGMRFSIDVFEETRGYILEVYGVHFELPDLGPIGANGLANPRDFLIPIAWYEDRQVPGGYTVINKYQGKLFAAKQDVSPFNVVAWHGNYTPYKYNLKNFMVINSVAFDHADPSIFTVLTAKSVRPGVAIADFVIFPPRWGVADKTFRPPYYHRNCMSEFMGLIRGHYEAKQGGFLPGGGSLHSTMTPHGPDADCFEKASKVKLAPERIADGTMAFMFESSLSLAVTKWGLKASRCLDENYHKCWEPLKSHFTPNSRNPAEPN
Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
Mol. Weight
54.0 kDa
Protein Length
Full Length
Tag Info
N-terminal 6xHis-tagged
Form
Liquid or Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
Buffer
If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.
Note: If you have any special requirement for the glycerol content, please remark when you place the order.
If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution
We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting and FAQs
Storage Condition
Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life
The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time
3-7 business days
Notes
Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet & COA
Please contact us to get it.
Description

Dive into the realm of metabolic research with our Recombinant Human HGD protein, a crucial enzyme in the catabolism of phenylalanine and tyrosine. As homogentisate 1,2-dioxygenase, it catalyzes the conversion of homogentisate to maleylacetoacetate, playing a key role in the degradation of aromatic amino acids. Deficiency or mutations in HGD can lead to the development of alkaptonuria, a rare metabolic disorder.

Produced in E. coli expression systems, our Recombinant Human HGD encompasses the full-length protein (1-445 amino acids) and comes with an N-terminal 6xHis-tag, enabling efficient purification and detection. With a purity greater than 85% as confirmed by SDS-PAGE, this high-quality protein ensures accurate and reproducible results in your experiments. Available in both liquid and lyophilized powder forms, our Recombinant Human HGD protein is adaptable to your specific research needs.

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Target Background

Gene References into Functions
  1. Twelve novel HGD gene variants have been identified in 99 alkaptonuria patients affecting the bones. PMID: 25804398
  2. A novel alkaptonuria mutation, c.87 + 1G > A, shows a significant founder effect and high prevalence in a nomadic Indian population. PMID: 24575791
  3. study described two novel HGD mutations in a Chinese alkaptonuria family, the splicing mutation of IVS7 1G>C, a donor splice site of exon 7, and a missense mutation of F329C in exon 12 PMID: 23353776
  4. Report mutations of the HGD gene in Jordanian alkaptonuria patients. PMID: 21437689
  5. The observed increase of HGD expression in Alkaptonuria cells is probably due to a compensatory mechanism to overcome the almost null catalytic activity of the deficient enzyme PMID: 22105303
  6. An update on molecular genetics of Alkaptonuria (AKU).(review) PMID: 21720873
  7. Familiar ochronotic arthropathy is caused by a gene mutation of the homogentisic acid 1,2-dioxygenase (HGD) gene traced three hundred years in a Hungarian family. PMID: 20462779
  8. A comprehensive mutation analysis of 93 patients enrolled in this study, as well as an extensive update of all previously published HGD mutations associated with alkaptonuria, is reported. PMID: 19862842
  9. Turkish mutation shares an homogentisate 1,2-dioxygenase haplotype with the mutation found in Finland, Slovakia and India, suggesting that R58fs is an old alkaptonuria mutation that probably originated in central Asia PMID: 12872836
  10. Four different mutations of the HGD gene were found in alkaptonuria and ochronotic arthropathy diagnoses. PMID: 16085442
  11. A single nucleotide deletion located in exon 3 resulted in a frameshift mutation in HGD gene in family with alkaptonuria. PMID: 18945288

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Involvement in disease
Alkaptonuria (AKU)
Protein Families
Homogentisate dioxygenase family
Tissue Specificity
Highest expression in the prostate, small intestine, colon, kidney and liver.
Database Links

HGNC: 4892

OMIM: 203500

KEGG: hsa:3081

STRING: 9606.ENSP00000283871

UniGene: Hs.368254

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