Argininosuccinate lyase

Protein
Name=PAGENAME


caption=
Symbol=ASL
AltSymbols=
HGNCid=746
Chromosome=7
Arm=p
Band=
LocusSupplementaryData=ter-q22
ECnumber=4.3.2.1
OMIM=608310
EntrezGene=435
RefSeq=NM_000048
UniProt=P04424
PDB=

ASL (argininosuccinate lyase) is the fourth enzyme of the urea cycle. Located in the cytosol of the cell, ASL facilitates the cleavage of argininosuccinate into the amino acid arginine, and fumarate which may eventrually be used to regenerate arginiosuccinate or feed into the TCA cycle.

The ASL gene is located on chromosome 7 between the centromere (junction of the long and short arm) and the long (q) arm at position 11.2, from base pair 64,984,963 to base pair 65,002,090.

ASL is related to intragenic complementation. [cite journal | author=Turner MA, Simpson A, McInnes RR, Howell PL | title=Human argininosuccinate lyase: a structural basis for intragenic complementation | journal=Proc Natl Acad Sci U S A | year=1997 | pages=9063–8 | volume=94 | issue=17 | doi=10.1073/pnas.94.17.9063 PMID 9256435] [cite journal | author=Yu B, Howell PL | title=Intragenic complementation and the structure and function of argininosuccinate lyase | journal=Cell Mol Life Sci | year=2000 | pages=1637–51 | volume=57 | issue=11 | doi=10.1007/PL00000646 PMID 11092456] [cite journal | author=Yu B, Thompson GD, Yip P, Howell PL, Davidson AR | title=Mechanisms for intragenic complementation at the human argininosuccinate lyase locus | journal=Biochemistry | year=2001 | pages=15581–90 | volume=40 | issue=51 | doi=10.1021/bi011526e PMID 11747433]

Related conditions

Argininosuccinic aciduria is associated with ASL. [cite journal | author=Reid Sutton V, Pan Y, Davis EC, Craigen WJ | title=A mouse model of argininosuccinic aciduria: biochemical characterization | journal=Mol Genet Metab | year=2003 | pages=11–6 | volume=78 | issue=1 | doi=10.1016/S1096-7192(02)00206-8 PMID 12559843] [cite journal | author=Tanaka T, Nagao M, Mori T, Tsutsumi H | title=A novel stop codon mutation (X465Y) in the argininosuccinate lyase gene in a patient with argininosuccinic aciduria | journal=Tohoku J Exp Med | year=2002 | pages=119–24 | volume=198 | issue=2 | doi=10.1620/tjem.198.119 PMID 12512996]

Several different mutations in the ASL gene have been identified. [cite journal | author=Linnebank M, Tschiedel E, Haberle J, Linnebank A, Willenbring H, Kleijer WJ, Koch HG | title=Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene | journal=Hum Genet | year=2002 | pages=350–9 | volume=111 | issue=4-5 | doi=10.1007/s00439-002-0793-4 PMID 12384776]

A mutated ASL gene may make an argininosuccinate lyase enzyme that is shorter than normal or the wrong shape.

The shape of an enzyme affects its ability to bring other substances together to start a chemical reaction. If the argininosuccinate lyase enzyme is misshapen, it cannot fulfill its role in the urea cycle. Excess nitrogen is not converted to urea for excretion, and toxic ammonia accumulates in the body.

References

External links

* [http://www.genecards.org/cgi-bin/carddisp?ASL GeneCard]