Argininosuccinate Synthetase 1

Alternative Names

ASS1
ASS

Length

56,568 bases

No. of Exons

No. of isoforms

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

View Map

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_000050.4:c.1168G>A	Iraq; Morocco; Qatar	chr9:130499545	Pathogenic	Pathogenic	Citrullinemia, Classic	NG_011542.1:g.59839G>A; NM_000050.4:c.1168G>A; NP_000041.2:p.Gly390Arg	121908641	6329
NM_000050.4:c.787G>A	Jordan; Lebanon; Qatar	NC_000009.12:g.130480398G>A	Likely Pathogenic, Pathogenic	Likely Pathogenic, Pathogenic	Citrullinemia, Classic	NG_011542.1:g.40692G>A; NM_000050.4:c.787G>A; NP_000041.2:p.Val263Met	192838388	92372
NM_054012.4:c.286C>A	Lebanon; Qatar	NC_000009.12:g.130458512C>A	Likely Pathogenic	Pathogenic	Citrullinemia, Classic	NG_011542.1:g.18806C>A; NM_054012.4:c.286C>A; NP_446464.1:p.Pro96Thr	2131874080	1332899
NM_054012.4:c.535T>C	Lebanon; Qatar; Syria;...	NC_000009.12:g.130470873T>C	Pathogenic	Likely Pathogenic, Pathogenic	Citrullinemia, Classic	NG_011542.1:g.31167T>C; NM_054012.4:c.535T>C; NP_000041.2:p.Trp179Arg	121908646	6335
NM_054012.4:c.685_688+6del	Lebanon; Syria	NC_000009.12:g.130476958_130476967del		Pathogenic	Citrullinemia, Classic	NG_011542.1:g.37252_37261del; NM_054012.4:c.685_688+6del; NP_446464.1:p.Lys229Glyfs*4
NM_054012.4:c.835C>T	Qatar	NC_000009.12:g.130480446C>T	Likely Pathogenic, Pathogenic	Pathogenic		NG_011542.1:g.40740C>T; NM_054012.4:c.835C>T; NP_446464.1:p.Arg279Ter	121908645	6333
NM_054012.4:c.847G>A	Iraq; Lebanon; Syria	NC_000009.12:g.130489341G>A	Likely Pathogenic, Pathogenic	Pathogenic	Citrullinemia, Classic	NG_011542.1:g.49635G>A; NM_054012.4:c.847G>A; NP_446464.1:p.Glu283Lys	765338121	430139
NM_054012.4:c.910C>T	Lebanon	NC_000009.12:g.130489404C>T	Pathogenic	Pathogenic	Citrullinemia, Classic	NG_011542.1:g.49698C>T; NM_054012.4:c.910C>T; NP_446464.1:p.Arg304Trp	121908642	6330
NM_054012.4:c.911G>A	Qatar	NC_000009.12:g.130489405G>A	Likely Pathogenic	Likely Pathogenic		NG_011542.1:g.49699G>A; NM_054012.4:c.911G>A; NP_446464.1:p.Arg304Gln	771640767	970822

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External Links

http://www.genecards.org/cgi-bin/carddisp.pl?gene=ASS1 https://medlineplus.gov/genetics/gene/ass1/

Contributors

Asha Deepthi: 10.06.2021
Pratibha Nair: 23.04.2014
Nada Assaf: 17.03.2014

Edit History

Asha Deepthi: 10.06.2021
Asha Deepthi: 08.07.2020
Pratibha Nair: 22.05.2014

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