Argininosuccinate lyase

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Argininosuccinate lyase
Argininosuccinate lyase
Argininosuccinate lyase dimer, human according to PDB  1AOS

Existing structural data : 1aos , 1k62

Properties of human protein
Mass / length primary structure 48.7 to 51.7 kilodaltons / 438 to 464 amino acids (depending on isoform)
Secondary to quaternary structure Homotetramer
Isoforms 3
Identifier
Gene name ASL
External IDs
Enzyme classification
EC, category 4.3.2.1 ,  lyase
Response type Cleavage of a CN bond
Substrate Argininosuccinate
Products Fumarate + arginine
Occurrence
Parent taxon Creature
Orthologue
human House mouse
Entrez 435 109900
Ensemble ENSG00000126522 ENSMUSG00000025533
UniProt P04424 Q91YI0
Refseq (mRNA) NM_000048 NM_133768
Refseq (protein) NP_000039 NP_598529
Gene locus Chr 7: 66.08 - 66.09 Mb Chr 5: 130.01 - 130.02 Mb
PubMed search 435 109900

The argininosuccinate lyase (ASL) is the enzyme , the cleavage of argininosuccinate in arginine and fumarate catalyzed . This reaction takes place in all living beings as the last step in arginine biosynthesis , but also counts in vertebrates as part of the urea cycle . Mutations in ASL - gene can ASL deficiency cause a urea cycle disorder with excretion of arginine Oberstein acid in the urine.

Due to its specific expression, ASL is suitable as a laboratory value for liver diseases .

Catalyzed reaction

Argininosuccinate⇔ Fumarate+Arginine

Argininosuccinate breaks down into fumarate and arginine.

Individual evidence

  1. ↑ Homologues at OMA
  2. ↑ UniProt P04424
  3. ↑ Trevisson E, Salviati L, Baldoin MC, et al. : Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene . In: Hum. Mutat. . 28, No. 7, July 2007, pp. 694-702. doi : 10.1002 / humu.20498 . PMID 17326097 .
  4. ↑ Feng JF, Chen TM, Wen YA, Wang J, Tu ZG: Study of serum argininosuccinate lyase determination for diagnosis of liver diseases . In: J. Clin. Lab. Anal. . 22, No. 3, 2008, pp. 220-7. doi : 10.1002 / jcla.20245 . PMID 18484660 .

Web links

Wikibooks: Urea Cycle  - Learning and Teaching Materials