Recombinant Human Homogentisate 1,2-dioxygenase (HGD)

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中文名稱：

人HGD重組蛋白
品名簡稱：

Recombinant Human HGD protein
貨號：

CSB-EP842354HU
說明書：

MSDS Datasheet
規格：

￥1836
圖片：
(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

純度：

Greater than 85% as determined by SDS-PAGE.
基因名：

HGD
Uniprot No.：

Q93099
別名：

2-dioxygenase; AKU; FLJ94126; hgd; HGD_HUMAN; HGO; Homogentisate 1 2 dioxygenase; Homogentisate 1; Homogentisate oxidase; Homogentisate oxygenase; Homogentisic acid oxidase; Homogentisicase
種屬：

Homo sapiens (Human)
蛋白長度：

Full Length
來源：

E.coli
分子量：

54.0 kDa
表達區域：

1-445aa
氨基酸序列

MAELKYISGFGNECSSEDPRCPGSLPEGQNNPQVCPYNLYAEQLSGSAFTCPRSTNKRSWLYRILPSVSHKPFESIDEGQVTHNWDEVDPDPNQLRWKPFEIPKASQKKVDFVSGLHTLCGAGDIKSNNGLAIHIFLCNTSMENRCFYNSDGDFLIVPQKGNLLIYTEFGKMLVQPNEICVIQRGMRFSIDVFEETRGYILEVYGVHFELPDLGPIGANGLANPRDFLIPIAWYEDRQVPGGYTVINKYQGKLFAAKQDVSPFNVVAWHGNYTPYKYNLKNFMVINSVAFDHADPSIFTVLTAKSVRPGVAIADFVIFPPRWGVADKTFRPPYYHRNCMSEFMGLIRGHYEAKQGGFLPGGGSLHSTMTPHGPDADCFEKASKVKLAPERIADGTMAFMFESSLSLAVTKWGLKASRCLDENYHKCWEPLKSHFTPNSRNPAEPN
Note: The complete sequence may include tag sequence, target protein sequence, linker sequence and extra sequence that is translated with the protein sequence for the purpose(s) of secretion, stability, solubility, etc.
If the exact amino acid sequence of this recombinant protein is critical to your application, please explicitly request the full and complete sequence of this protein before ordering.
蛋白標簽：

N-terminal 6xHis-tagged
產品提供形式：

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.
緩沖液：

Tris-based buffer,50% glycerol
儲存條件：

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
保質期：

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.
貨期：

3-7 business days
注意事項：

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.

產品評價

靶點詳情

基因功能參考文獻：
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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相關疾病：

Alkaptonuria (AKU)
蛋白家族：

Homogentisate dioxygenase family
組織特異性：

Highest expression in the prostate, small intestine, colon, kidney and liver.
數據庫鏈接：

HGNC: 4892

OMIM: 203500

KEGG: hsa:3081

STRING: 9606.ENSP00000283871

UniGene: Hs.368254