ASL (argininosuccinate lyase)

2012-01-01  

Identity

HGNC
LOCATION
7q11.21
LOCUSID
ALIAS
ASAL
FUSION GENES

Other Information

Locus ID:

NCBI: 435
MIM: 608310
HGNC: 746
Ensembl: ENSG00000126522

Variants:

dbSNP: 435
ClinVar: 435
TCGA: ENSG00000126522
COSMIC: ASL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000126522ENST00000304874P04424
ENSG00000126522ENST00000304874A0A024RDL8
ENSG00000126522ENST00000362000F8W943
ENSG00000126522ENST00000380839P04424
ENSG00000126522ENST00000380839A0A0S2Z316
ENSG00000126522ENST00000395331P04424
ENSG00000126522ENST00000395332P04424
ENSG00000126522ENST00000395332A0A024RDL8
ENSG00000126522ENST00000673518A0A0S2Z316

Expression (GTEx)

0
50
100
150
200
250

Pathways

PathwaySourceExternal ID
Arginine biosynthesisKEGGko00220
Arginine biosynthesisKEGGhsa00220
Alanine, aspartate and glutamate metabolismKEGGko00250
Alanine, aspartate and glutamate metabolismKEGGhsa00250
Metabolic pathwaysKEGGhsa01100
Urea cycleKEGGhsa_M00029
Urea cycleKEGGM00029
Biosynthesis of amino acidsKEGGhsa01230
Biosynthesis of amino acidsKEGGko01230
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Urea cycleREACTOMER-HSA-70635
Metabolism of polyaminesREACTOMER-HSA-351202

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166176020sodium benzoate / sodium phenylacetateChemicalLabelAnnotationassociated

References

Pubmed IDYearTitleCitations
374903452023Argininosuccinate lyase deficiency causes blood-brain barrier disruption via nitric oxide-mediated dysregulation of claudin expression.1
374903452023Argininosuccinate lyase deficiency causes blood-brain barrier disruption via nitric oxide-mediated dysregulation of claudin expression.1
338460692021Biomarkers for liver disease in urea cycle disorders.6
338515122021Variants associated with urea cycle disorders in Japanese patients: Nationwide study and literature review.5
338460692021Biomarkers for liver disease in urea cycle disorders.6
338515122021Variants associated with urea cycle disorders in Japanese patients: Nationwide study and literature review.5
319435032020From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.9
324103942020Clinical and genetic analysis of five Chinese patients with urea cycle disorders.3
319435032020From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.9
324103942020Clinical and genetic analysis of five Chinese patients with urea cycle disorders.3
310189052019KLF7 promotes polyamine biosynthesis and glioma development through transcriptionally activating ASL.17
311833662019Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate Lyase Deficiency.0
310189052019KLF7 promotes polyamine biosynthesis and glioma development through transcriptionally activating ASL.17
311833662019Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate Lyase Deficiency.0
278409802017Silencing of argininosuccinate lyase inhibits colorectal cancer formation.13

Citation

Dessen P

ASL (argininosuccinate lyase)

Atlas Genet Cytogenet Oncol Haematol. 2012-01-01

Online version: http://atlasgeneticsoncology.org/gene/52543/asl-(argininosuccinate-lyase)