ADSL Antibody

Code CSB-PA001397GA01HU
Size US$685
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Product Details

Uniprot No. P30566
Target Names ADSL
Alternative Names Adenylosuccinase antibody; Adenylosuccinate lyase antibody; ADSL antibody; AMPS antibody; ASase antibody; ASL antibody; OTTHUMP00000199172 antibody; OTTHUMP00000199173 antibody; PUR8_HUMAN antibody
Raised in Rabbit
Species Reactivity Human,Mouse,Rat
Immunogen Human ADSL
Immunogen Species Homo sapiens (Human)
Isotype IgG
Purification Method Antigen Affinity purified
Concentration It differs from different batches. Please contact us to confirm it.
Buffer PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
Tested Applications ELISA,WB,IHC,IF
Protocols ELISA Protocol
Western Blotting(WB) Protocol
Immunohistochemistry (IHC) Protocol
Immunofluorescence (IF) Protocol
Troubleshooting and FAQs Antibody FAQs
Storage Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time 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.

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Target Data

Function Catalyzes two non-sequential steps in de novo AMP synthesis
Gene References into Functions
  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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Involvement in disease Adenylosuccinase deficiency (ADSLD)
Protein Families Lyase 1 family, Adenylosuccinate lyase subfamily
Tissue Specificity Ubiquitously expressed. Both isoforms are produced by all tissues. Isoform 2 is 10-fold less abundant than isoform 1.
Database Links

HGNC: 291

OMIM: 103050

KEGG: hsa:158

STRING: 9606.ENSP00000216194

UniGene: Hs.75527

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