Argininosuccinate Lyase

Alternative Names

ASL
Argininosuccinase

Length

17770 bases

No. of Exons

No. of isoforms

Protein Name

Argininosuccinate lyase

Molecular Mass

51658Da

Amino Acid Count

464

Genomic Location

chr7:66075789-66093558

Gene Map Locus

7q11.21

Description

Argininosuccinate lyase, encoded by ASL gene, is a lyase 1 family protein. As an important component of the urea cycle, argininosuccinate lyase regulates detoxification of ammonia in the liver. Mutations in ASL gene cause argininosuccinic aciduria. These mutations disrupt the urea cycle, leading to accumulation of highly toxic ammonia in the blood, which could have a detrimental effect on the nervous system.

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_000048.4:c.1060C>T	Qatar; Saudi Arabia	NC_000007.14:g.66089693C>T	Pathogenic	Pathogenic	Argininosuccinic Aciduria	NG_009288.1:g.18905C>T; NM_000048.4:c.1060C>T; NP_000039.2:p.Gln354Ter	367543005	21253
NM_000048.4:c.1081G>T	Saudi Arabia	NC_000007.14:g.66092024G>T		Likely Pathogenic	Argininosuccinic Aciduria	NG_009288.1:g.21236G>T; NM_000048.4:c.1081G>T; NP_000039.2:p.Gly361Ter
NM_000048.4:c.1135C>G	Saudi Arabia	NC_000007.14:g.66092078C>G	Likely Pathogenic	Likely Pathogenic	Argininosuccinic Aciduria	NG_009288.1:g.21290C>G; NM_000048.4:c.1135C>G; NP_001020115.1:p.Arg359Cys	28940287	2196834
NM_000048.4:c.1135C>T	Arab	NC_000007.14:g.66092078C>T	Likely Pathogenic, Pathogenic	Likely Pathogenic	Argininosuccinic Aciduria	NG_009288.1:g.21290C>T; NM_000048.4:c.1135C>T; NP_000039.2:p.Arg379Cys	28940287	2403
NM_000048.4:c.1136G>A	Qatar	NC_000007.14:g.66092079G>A	Likely Pathogenic, Uncertain Significance	Pathogenic		NG_009288.1:g.21291G>A; NM_000048.4:c.1136G>A; NP_000039.2:p.Arg379His	200853731	964738
NM_000048.4:c.1143+5G>C	Saudi Arabia	NC_000007.14:g.66092091G>C		Likely Pathogenic	Argininosuccinic Aciduria	NG_009288.1:g.21303G>C; NM_000048.4:c.1143+5G>C
NM_000048.4:c.1153C>T	Lebanon	NC_000007.14:g.66092566C>T	Likely Pathogenic, Pathogenic	Likely Pathogenic	Argininosuccinic Aciduria	NG_009288.1:g.21778C>T; NM_000048.4:c.1153C>T; NP_000039.2:p.Arg385Cys	28940286	2401
NM_000048.4:c.1275C>T	Arab	NC_000007.14:g.66092792C>T	Likely Benign	Uncertain Significance	Argininosuccinic Aciduria	NG_009288.1:g.22004C>T; NM_000048.4:c.1275C>T; NP_000039.2:p.Ile425=	771218861	799316
NM_000048.4:c.175G>A	Morocco	NC_000007.14:g.66081965G>A	Likely Pathogenic, Pathogenic	Likely Pathogenic	Argininosuccinic Aciduria	NG_009288.1:g.11177G>A; NM_000048.4:c.175G>A; NP_000039.2:p.Glu59Lys	869312985	224970
NM_000048.4:c.291+1G>T	Qatar	NC_000007.14:g.66082452G>T	Likely Pathogenic	Pathogenic		NG_009288.1:g.11664G>T; NM_000048.4:c.291+1G>T; NP_000039.2:p.?	201523601	203624
NM_000048.4:c.299T>A	Qatar	NC_000007.14:g.66082887T>A	Likely Pathogenic	Pathogenic		NG_009288.1:g.12099T>A; NM_000048.4:c.299T>A; NP_000039.2:p.Ile100Asn	202142867	1685244
NM_000048.4:c.299T>C	Qatar	NC_000007.14:g.66082887T>C	Likely Pathogenic, Pathogenic	Pathogenic		NG_009288.1:g.12099T>C; NM_000048.4:c.299T>C; NP_000039.2:p.Ile100Thr	202142867	495379
NM_000048.4:c.332G>A	United Arab Emirates	NC_000007.14:g.66082920G>A	Likely Pathogenic, Pathogenic, Uncertain Significance	Likely Pathogenic, Uncertain Significance	Argininosuccinic Aciduria	NG_009288.1:g.12132G>A; NM_000048.4:c.332G>A; NP_000039.2:p.Arg111Gln	561367199	288770
NM_000048.4:c.343G>T	Saudi Arabia	NC_000007.14:g.66082931G>T		Likely Pathogenic	Argininosuccinic Aciduria	NG_009288.1:g.12143G>T; NM_000048.4:c.343G>T; NP_000039.2:p.Asp115Tyr	756692067	NA
NM_000048.4:c.346C>T	Arab	NC_000007.14:g.66082934C>T	Pathogenic	Likely Pathogenic	Argininosuccinic Aciduria	NG_009288.1:g.12146C>T; NM_000048.4:c.346C>T; NP_000039.2:p.Gln116Ter	367543006	21254
NM_000048.4:c.469G>A	Saudi Arabia	NC_000007.14:g.66086607G>A		Likely Pathogenic	Argininosuccinic Aciduria	NG_009288.1:g.15819G>A; NM_000048.4:c.469G>A; NP_000039.2:p.Gly157Arg
NM_000048.4:c.485A>G	Saudi Arabia	NC_000007.14:g.66086623A>G	Uncertain Significance	Likely Pathogenic	Argininosuccinic Aciduria	NG_009288.1:g.15835A>G; NM_000048.4:c.485A>G; NP_000039.2:p.Gln162Arg	1554327025	557829
NM_000048.4:c.496C>T	Saudi Arabia	NC_000007.14:g.66086634C>T	Uncertain Significance	Likely Pathogenic	Argininosuccinic Aciduria	NG_009288.1:g.15846C>T; NM_000048.4:c.496C>T; NP_000039.2:p.Pro166Ser	1246351622	1303073
NM_000048.4:c.544C>G	Sudan	NC_000007.14:g.66086763C>G		Likely Pathogenic	Argininosuccinic Aciduria	NG_009288.1:g.15975C>G; NM_000048.4:c.544C>G; NP_000039.2:p.Arg182Gly
NM_000048.4:c.544C>T	Saudi Arabia	NC_000007.14:g.66086763C>T	Pathogenic	Pathogenic	Argininosuccinic Aciduria	NG_009288.1:g.15975C>T; NM_000048.4:c.544C>T; NP_000039.2:p.Arg182Ter	398123126	92362
NM_000048.4:c.545G>A	Qatar	NC_000007.14:g.66086764G>A	Likely Pathogenic, Pathogenic	Pathogenic		NG_009288.1:g.15976G>A; NM_000048.4:c.545G>A; NP_000039.2:p.Arg182Gln	751590073	203613
NM_000048.4:c.556C>T	Qatar; Saudi Arabia	NC_000007.14:g.66086775C>T	Benign, Likely Benign, Likely Pathogenic, Pathogenic	Likely Pathogenic, Pathogenic	Argininosuccinic Aciduria	NG_009288.1:g.15987C>T; NM_000048.4:c.556C>T; NP_000039.2:p.Arg186Trp	111407265	1050820
NM_000048.4:c.857A>G	Qatar	NC_000007.14:g.66089114A>G	Pathogenic	Pathogenic		NG_009288.1:g.18326A>G; NM_000048.4:c.857A>G; NP_000039.2:p.Gln286Arg	28941472	2399

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External Links

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

Contributors

Pratibha Nair: 27.09.2021
Asha Deepthi: 13.06.2021
Sayeeda Hana: 17.09.2016
Ghazi O. Tadmouri: 21.07.2014
Abdul R Hamzeh: 17.07.2014
Pratibha Nair: 28.04.2014
Nada Assaf: 18.03.2014

Edit History

Pratibha Nair: 21.11.2023
Pratibha Nair: 27.09.2021
Asha Deepthi: 13.06.2021
Asha Deepthi: 21.02.2019
Pratibha Nair: 23.07.2014
Abdul R Hamzeh: 20.07.2014

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