Argininosuccinate lyase
From Wikipedia, the free encyclopedia
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Argininosuccinate lyase
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| Identifiers | |
| Symbol | ASL |
| Entrez | 435 |
| HUGO | 746 |
| OMIM | 608310 |
| RefSeq | NM_000048 |
| UniProt | P04424 |
| Other data | |
| EC number | 4.3.2.1 |
| Locus | Chr. 7 pter-q22 |
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.
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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.[1][2][3]
[edit] Related conditions
Argininosuccinic aciduria is associated with ASL. [4][5]
Several different mutations in the ASL gene have been identified.[6]
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.
[edit] References
- ^ Turner MA, Simpson A, McInnes RR, Howell PL (1997). "Human argininosuccinate lyase: a structural basis for intragenic complementation". Proc Natl Acad Sci U S A 94 (17): 9063–8. doi:. PMID 9256435
- ^ Yu B, Howell PL (2000). "Intragenic complementation and the structure and function of argininosuccinate lyase". Cell Mol Life Sci 57 (11): 1637–51. doi:. PMID 11092456
- ^ Yu B, Thompson GD, Yip P, Howell PL, Davidson AR (2001). "Mechanisms for intragenic complementation at the human argininosuccinate lyase locus". Biochemistry 40 (51): 15581–90. doi:. PMID 11747433
- ^ Reid Sutton V, Pan Y, Davis EC, Craigen WJ (2003). "A mouse model of argininosuccinic aciduria: biochemical characterization". Mol Genet Metab 78 (1): 11–6. doi:. PMID 12559843
- ^ Tanaka T, Nagao M, Mori T, Tsutsumi H (2002). "A novel stop codon mutation (X465Y) in the argininosuccinate lyase gene in a patient with argininosuccinic aciduria". Tohoku J Exp Med 198 (2): 119–24. doi:. PMID 12512996
- ^ Linnebank M, Tschiedel E, Haberle J, Linnebank A, Willenbring H, Kleijer WJ, Koch HG (2002). "Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene". Hum Genet 111 (4-5): 350–9. doi:. PMID 12384776
[edit] External links
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