Creative Biolabs has been focusing on the development of high-quality in vitro diagnostic (IVD) biomarker for disease research. We now provide one-stop analysis services for argininosuccinate lyase (ASL) protein.
ASL Structure
ASL protein is a functional homotetramer of four identical ASL monomers assembled to form 208kDa, capable of breaking down arginine succinate to produce arginine and fumarate. Mutations are distributed throughout the gene, especially the mutation rate of exons 4, 5 and 7 was higher.
Fig.1 ASL protein structure.1
ASL in Disease
Argininosuccinic aciduria is an amino acid disorder caused by a deficiency of ASL that disrupts the fourth step of the urea cycle and is characterized by blood ammonia and encephalopathy. Deficiency of ASL, which prevents the conversion of arginine succinate to fumaric acid and arginine, can lead to chronic liver disease, neurocognitive deficits, and systemic hypertension, etc. The urea cycle is a series of chemical reactions in the cells of the liver that converts excess nitrogen produced by the use of proteins into urea, which is excreted by the kidneys.
The prevalence of ASL deficiency (ASLD) is estimated at 1 in 70,000 infants and is characterized by severe mental retardation and persistent abnormal amino acid metabolism. ASLD may also develop delayed hyperammonemia or long-term complications, include liver dysfunction, neurocognitive deficits, seizures and high blood pressure and so forth.
There is a marked increase in neurological abnormalities in patients with ASLD.
Liver involvement in patients with ASLD ranges from hepatomegaly to elevated liver enzymes to severe liver fibrosis.
Hypertension is overrepresented in patients with ASLD, and secondary causes of hypertension are often not detected.
Some patients with ASLD may develop electrolyte imbalances, such as hypokalemia, of unknown etiology.
Services Provided by Creative Biolabs
The increase of citrulline in plasma and argininosuccinate in plasma or urine is the main basis of biochemical diagnosis of ASLD. Molecular genetic assay of ASL and enzyme activity of ASL are helpful to determine the biochemical results.
Services at Creative Biolabs can be customized to suit the specific needs of our clients, popular analysis services targeting ASL include but not limited to the following:
| Cat | Service |
|---|---|
| BAS114-1 | ASL Antibody Development |
| BAS114-2 | ASL Genetic Assay |
| BAS114-3 | ASL Biochemical Assay |
| BAS114-4 | ASL Protein Analysis |
| BAS114-5 | ASL Mutants Analysis |
| BAS114-6 | ASL Enzymatic Activity Assay |
| BAS114-7 | ASL Genotype-phenotype correlation Analysis |
We are committed to providing the highest quality of custom services and products at the most reasonable prices. Please feel free to contact us for more information and a formal quote.
Reference
- Zhao, Mei, et al. "Whole‐Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate Lyase Deficiency." BioMed Research International 2019.1 (2019): 3530198. Distributed under CC BY-SA 4.0, without modification.
For Research Use Only.
