Recombinant Human Homogentisate 1,2-dioxygenase(HGD)

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Code CSB-EP842354HU
Size US$2466Purchase it in Cusabio online store
(only available for customers from the US)
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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. Q93099
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
Protein FAQs
Storage Condition Store at -20°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 Basically, we can dispatch the products out in 3-7 working days after receiving your orders. Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
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.

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Target Data

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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