Argininosuccinate Lyase

Alternative Names

  • ASL
  • Argininosuccinase

Associated Diseases

Argininosuccinic Aciduria
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OMIM Number

608310

NCBI Gene ID

435

Uniprot ID

P04424

Length

17770 bases

No. of Exons

17

No. of isoforms

3

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 NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000048.4:c.1060C>TSaudi ArabiaNC_000007.14:g.66089693C>TPathogenicPathogenicArgininosuccinic AciduriaNG_009288.1:g.18905C>T; NM_000048.4:c.1060C>T; NP_000039.2:p.Gln354Ter36754300521253
NM_000048.4:c.1081G>TSaudi ArabiaNC_000007.14:g.66092024G>TLikely PathogenicArgininosuccinic AciduriaNG_009288.1:g.21236G>T; NM_000048.4:c.1081G>T; NP_000039.2:p.Gly361Ter
NM_000048.4:c.1135C>GSaudi ArabiaNC_000007.14:g.66092078C>GLikely PathogenicLikely PathogenicArgininosuccinic AciduriaNG_009288.1:g.21290C>G; NM_000048.4:c.1135C>G; NP_001020115.1:p.Arg359Cys289402872196834
NM_000048.4:c.1135C>TArabNC_000007.14:g.66092078C>TLikely Pathogenic, PathogenicLikely PathogenicArgininosuccinic AciduriaNG_009288.1:g.21290C>T; NM_000048.4:c.1135C>T; NP_000039.2:p.Arg379Cys289402872403
NM_000048.4:c.1143+5G>CSaudi ArabiaNC_000007.14:g.66092091G>CLikely PathogenicArgininosuccinic AciduriaNG_009288.1:g.21303G>C; NM_000048.4:c.1143+5G>C
NM_000048.4:c.1153C>TLebanonNC_000007.14:g.66092566C>TLikely Pathogenic, PathogenicLikely PathogenicArgininosuccinic AciduriaNG_009288.1:g.21778C>T; NM_000048.4:c.1153C>T; NP_000039.2:p.Arg385Cys289402862401
NM_000048.4:c.1275C>TArabNC_000007.14:g.66092792C>TLikely BenignUncertain SignificanceArgininosuccinic AciduriaNG_009288.1:g.22004C>T; NM_000048.4:c.1275C>T; NP_000039.2:p.Ile425=771218861799316
NM_000048.4:c.175G>AMoroccoNC_000007.14:g.66081965G>ALikely Pathogenic, PathogenicLikely PathogenicArgininosuccinic AciduriaNG_009288.1:g.11177G>A; NM_000048.4:c.175G>A; NP_000039.2:p.Glu59Lys869312985224970
NM_000048.4:c.332G>AUnited Arab EmiratesNC_000007.14:g.66082920G>ALikely Pathogenic, Pathogenic, Uncertain SignificanceLikely Pathogenic, Uncertain SignificanceArgininosuccinic AciduriaNG_009288.1:g.12132G>A; NM_000048.4:c.332G>A; NP_000039.2:p.Arg111Gln561367199288770
NM_000048.4:c.343G>TSaudi ArabiaNC_000007.14:g.66082931G>TLikely PathogenicArgininosuccinic AciduriaNG_009288.1:g.12143G>T; NM_000048.4:c.343G>T; NP_000039.2:p.Asp115Tyr756692067NA
NM_000048.4:c.346C>TArabNC_000007.14:g.66082934C>TPathogenicLikely PathogenicArgininosuccinic AciduriaNG_009288.1:g.12146C>T; NM_000048.4:c.346C>T; NP_000039.2:p.Gln116Ter36754300621254
NM_000048.4:c.469G>ASaudi ArabiaNC_000007.14:g.66086607G>ALikely PathogenicArgininosuccinic AciduriaNG_009288.1:g.15819G>A; NM_000048.4:c.469G>A; NP_000039.2:p.Gly157Arg
NM_000048.4:c.496C>TSaudi ArabiaNC_000007.14:g.66086634C>TUncertain SignificanceLikely PathogenicArgininosuccinic AciduriaNG_009288.1:g.15846C>T; NM_000048.4:c.496C>T; NP_000039.2:p.Pro166Ser12463516221303073
NM_000048.4:c.544C>GSudanNC_000007.14:g.66086763C>GLikely PathogenicArgininosuccinic AciduriaNG_009288.1:g.15975C>G; NM_000048.4:c.544C>G; NP_000039.2:p.Arg182Gly
NM_000048.4:c.544C>TSaudi ArabiaNC_000007.14:g.66086763C>TPathogenicPathogenicArgininosuccinic AciduriaNG_009288.1:g.15975C>T; NM_000048.4:c.544C>T; NP_000039.2:p.Arg182Ter39812312692362
NM_000048.4:c.556C>TSaudi ArabiaNC_000007.14:g.66086775C>TBenign, Likely Benign, Likely Pathogenic, PathogenicLikely PathogenicArgininosuccinic AciduriaNG_009288.1:g.15987C>T; NM_000048.4:c.556C>T; NP_000039.2:p.Arg186Trp1114072651050820
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