Argininosuccinate Synthetase 1

Alternative Names

  • ASS1
  • ASS

Associated Diseases

Citrullinemia, Classic
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OMIM Number

603470

NCBI Gene ID

445

Uniprot ID

P00966

Length

56,568 bases

No. of Exons

18

No. of isoforms

1

Protein Name

Argininosuccinate synthase

Molecular Mass

46,530 Da

Amino Acid Count

412

Genomic Location

chr9:130,444,707-130,501,274

Gene Map Locus
9q34.11

Description

The human genome has several copies of the ASS1 gene spread across 11 chromosomes. Out of these copies, the functional one is localized to the long arm of chromosome 9. It encodes an enzyme named argininosuccinate synthetase, which is involved in the urea cycle and biosynthesis of arginine.

Mutations in the chromosome 9 copy of ASS1 gene are associated with type I citrullinemia. These mutations affect the structure of argininosuccinate synthetase enzyme or may lead to its deficiency resulting in the accumulation of ammonia and other toxic byproducts of the urea cycle in the bloodstream.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_000050.4:c.1168G>AMoroccochr9:130499545PathogenicCitrullinemia, ClassicNG_011542.1:g.59839G>A; NM_000050.4:c.1168G>A; NP_000041.2:p.Gly390Arg1219086416329
NM_000050.4:c.535T>CSyria; United Arab Emi...NC_000009.12:g.130470873T>CPathogenicCitrullinemia, ClassicNG_011542.1:g.31167T>C; NM_000050.4:c.535T>C; NP_000041.2:p.Trp179Arg1219086466335
NM_000050.4:c.787G>AJordanNC_000009.12:g.130480398G>ALikely Pathogenic,PathogenicCitrullinemia, ClassicNG_011542.1:g.40692G>A; NM_000050.4:c.787G>A; NP_000041.2:p.Val263Met19283838892372
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