Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Argininosuccinate lyase

ASL encodes an enzyme of the urea cycle. Mutations cause Argininosuccinic aciduria, an autosomal recessive disorder.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Argininosuccinic aciduria
ASL

References:

1.

Zhao S et al. (2010) Regulation of cellular metabolism by protein lysine acetylation.

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2.

Linnebank M et al. (2002) Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene.

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3.

Kleijer WJ et al. (2002) Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families.

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4.

Trevisson E et al. (2007) Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.

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5.

Nagamani SC et al. (2012) Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria.

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6.

Walker DC et al. (1990) Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region.

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7.

None () ////

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8.

Abramson RD et al. (1991) Characterization of the human argininosuccinate lyase gene and analysis of exon skipping.

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9.

Erez A et al. (2011) Requirement of argininosuccinate lyase for systemic nitric oxide production.

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10.

Todd S et al. (1989) cDNA sequence, interspecies comparison, and gene mapping analysis of argininosuccinate lyase.

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11.

Naylor SL et al. (1978) Argininosuccinic aciduria: assignment of the argininosuccinate lyase gene to the pter to q22 region of human chromosome 7 by bioautography.

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12.

Piatigorsky J et al. (1988) Gene sharing by delta-crystallin and argininosuccinate lyase.

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13.

Matuo S et al. (1988) Isolation of cDNA clones of human argininosuccinate lyase and corrected amino acid sequence.

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14.

O'Brien WE et al. (1986) Cloning and sequence analysis of cDNA for human argininosuccinate lyase.

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15.

Orphanet article

Orphanet ID 121455 [^]
16.

NCBI article

NCBI 435 [^]
17.

OMIM.ORG article

Omim 608310 [^]
18.

Wikipedia article

Wikipedia EN (Argininosuccinate_lyase) [^]
Update: April 29, 2019