ADSL Antibody

說明書

中文名稱：

ADSL兔多克隆抗體
貨號：

CSB-PA001397ESR2HU
規格：

￥440
圖片：
Western blot
All lanes: ADSL antibody at 2µg/ml
Lane 1: Hela whole cell lysate
Lane 2: Mouse heart tissue
Secondary
Goat polyclonal to rabbit IgG at 1/10000 dilution
Predicted band size: 55, 49 kDa
Observed band size: 55 kDa

Immunohistochemistry of paraffin-embedded human lung tissue using CSB-PA001397ESR2HU at dilution of 1:100
其他：

產品詳情
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靶點詳情

產品詳情

產品名稱：

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

P30566
基因名：

ADSL
別名：

Adenylosuccinase antibody; Adenylosuccinate lyase antibody; ADSL antibody; AMPS antibody; ASase antibody; ASL antibody; OTTHUMP00000199172 antibody; OTTHUMP00000199173 antibody; PUR8_HUMAN antibody
宿主：

Rabbit
反應種屬：

Human, Mouse
免疫原：

Recombinant Human Adenylosuccinate lyase protein (1-310AA)
免疫原種屬：

Homo sapiens (Human)
標記方式：

Non-conjugated
克隆類型：

Polyclonal
抗體亞型：

IgG
純化方式：

Antigen Affinity Purified
濃度：

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

PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
產品提供形式：

Liquid
應用范圍：

ELISA, WB, IHC

推薦稀釋比：

Application	Recommended Dilution
WB	1:500-1:2000
IHC	1:20-1:200

Protocols：

ELISA Protocol
Western Blotting (WB) Protocol
Immunohistochemistry (IHC) 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

功能：

Catalyzes two non-sequential steps in de novo AMP synthesis: converts (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate (SAICAR) to fumarate plus 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide, and thereby also contributes to de novo IMP synthesis, and converts succinyladenosine monophosphate (SAMP) to AMP and fumarate.
基因功能參考文獻：
1. Case Report: Malaysian patient compound heterozygous for two novel ADSL mutations giving rise to adenylosuccinate lyase deficiency. PMID: 20177786
2. Missense mutations in the adenylosuccinate lyase is associated with Adenylosuccinate lyase deficiency, an inborn error of purine metabolism characterized by neurological and physiological symptoms. PMID: 23714113
3. structural and biochemical characterization data of WT and mutant R303C ADSL by enzyme kinetics, product binding by isothermal titration calorimetry and X-ray crystallography to reveal the effects of the R303C mutation that results in a nonparallel reduction in enzyme activity PMID: 22812634
4. Results proved in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency that various mutations of ADSL destabilize to various degrees purinosome assembly and found that the ability to form purinosomes correlates with clinical phenotypes of individual ADSL patients. PMID: 22180458
5. D-ribose administration in Polish patients with adenylosuccinate lyase deficiency was accompanied by neither reduction in seizure frequency nor growth enhancement. PMID: 18649008
6. the cases of the only three children diagnosed to date in the United Kingdom with adenylosuccinate lyase deficiency PMID: 20933180
7. Mutation of a nuclear respiratory factor 2 binding site in the 5' untranslated region of the ADSL gene in three patients with adenylosuccinate lyase deficiency. PMID: 12016589
8. Mutations at position 276 result in structurally impaired adenylosuccinate lyases which are assembled into the defective tetramers associated with the mild variant of ADSL deficiency in humans. PMID: 12590570
9. Variable expression of ADSL deficiency is reported in three patients belonging to a family which originates from Portugal. PMID: 12833398
10. a mutation in adenylosuccinate lyase may be associated with autism PMID: 15471876
11. case report of adenylosuccinate lyase deficiency shows a mutation in ASDL PMID: 15571235
12. cloning, expression and purification of catalytically active human adenylosuccinate lyase PMID: 16973378
13. ADSL deficiency may present with prenatal growth restriction, fetal and neonatal hypokinesia, and rapidly fatal neonatal encephalopathy. PMID: 17188615
14. Analysis of the ADSL gene showed a R426H mutation in four unrelated patients with metabolic diseases. PMID: 18524658
15. Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants. PMID: 19405474
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相關疾病：

Adenylosuccinase deficiency (ADSLD)
蛋白家族：

Lyase 1 family, Adenylosuccinate lyase subfamily
組織特異性：

Ubiquitously expressed. Both isoforms are produced by all tissues. Isoform 2 is 10-fold less abundant than isoform 1.
數據庫鏈接：

HGNC: 291

OMIM: 103050

KEGG: hsa:158

STRING: 9606.ENSP00000216194

UniGene: Hs.75527

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