HGD Antibody, Biotin conjugated

說明書

中文名稱：

HGD兔多克隆抗體, Biotin偶聯
貨號：

CSB-PA842354LD01HU
規格：

￥880
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

產品名稱：

Rabbit anti-Homo sapiens (Human) HGD Polyclonal antibody
Uniprot No.：

Q93099
基因名：

HGD
別名：

Homogentisate 1,2-dioxygenase (EC 1.13.11.5) (Homogentisate oxygenase) (Homogentisic acid oxidase) (Homogentisicase), HGD, HGO
宿主：

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human Homogentisate 1,2-dioxygenase protein (226-445aa)
免疫原種屬：

Homo sapiens (Human)
標記方式：

Biotin
克隆類型：

Polyclonal
抗體亞型：

IgG
純化方式：

>95%, Protein G purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
產品提供形式：

Liquid
應用范圍：

ELISA
Protocols：

ELISA Protocol
儲存條件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期：

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
用途：

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

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

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