ASL

GENE INFORMATION

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Gene name

ASL

Synonyms

Description

argininosuccinate lyase (HGNC Symbol)

Entrez gene summary

This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

Chromosome

7 (Chromosome progress)

Cytoband

q11.21

Chromosome location (bp)

65540785 - 65558545

Ensembl

ENSG00000126522 (version 73.37)

Entrez gene

435

UniProt

P04424 (UniProt - Evidence at protein level)

neXtProt

NX_P04424

Antibodypedia

ASL antibodies
 

PROTEIN VIEW

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ASL-001
 
ASL-004
 
ASL-005
 
ASL-006
 
ASL-007
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ASL-001 ENSP00000307188
ENST00000304874
P04424
Show all »
Show » Show » 464 51.7 No 0
ASL-004 ENSP00000370219
ENST00000380839
P04424
Show all »
Show » Show » 438 48.7 No 0
ASL-005 ENSP00000378741
ENST00000395332
P04424
Show all »
Show » Show » 464 51.7 No 0
ASL-006 ENSP00000378740
ENST00000395331
P04424
Show all »
Show » Show » 444 49.5 No 0
ASL-007 ENSP00000354710
ENST00000362000
F8W943
Show all »
Show » Show » 242 27.4 No 0