Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Argininosuccinate synthetase

The ASS gene encodes argininosuccinate synthetase, a liver enzyme involved in nitrogen disposal. Loss-of-function mutations affecting this gene cause autosomal recessive citrullinemia type 1 (classic).

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 20 days
Specimen type genomic DNA
Clinic Method Target mutation analysis
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

Citrullinemia type 1
ASS1

References:

1.

Kobayashi K et al. (1990) Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia.

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2.

Orphanet article

Orphanet ID 121468 [^]
3.

NCBI article

NCBI 445 [^]
4.

OMIM.ORG article

Omim 603470 [^]
5.

Wikipedia article

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