Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
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Argininosuccinase

Das ASL-Gen kodiert die Argininosuccinase, ein Enzym, welches eine wichtige Rolle im Harnstoffzyklus spielt. Mutationen führen zur Argininosukzinurie einer autosomal rezessiven Erkrankung.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Argininbernsteinsäure-Krankheit
ASL

Referenzen:

1.

Linnebank M et al. (2002) Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene.

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2.

O'Brien WE et al. (1986) Cloning and sequence analysis of cDNA for human argininosuccinate lyase.

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3.

Matuo S et al. (1988) Isolation of cDNA clones of human argininosuccinate lyase and corrected amino acid sequence.

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4.

Piatigorsky J et al. (1988) Gene sharing by delta-crystallin and argininosuccinate lyase.

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5.

Naylor SL et al. (1978) Argininosuccinic aciduria: assignment of the argininosuccinate lyase gene to the pter to q22 region of human chromosome 7 by bioautography.

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6.

Todd S et al. (1989) cDNA sequence, interspecies comparison, and gene mapping analysis of argininosuccinate lyase.

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7.

Erez A et al. (2011) Requirement of argininosuccinate lyase for systemic nitric oxide production.

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8.

Abramson RD et al. (1991) Characterization of the human argininosuccinate lyase gene and analysis of exon skipping.

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9.

None () ////

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10.

Walker DC et al. (1990) Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region.

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11.

Nagamani SC et al. (2012) Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria.

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12.

Trevisson E et al. (2007) Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.

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13.

Kleijer WJ et al. (2002) Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families.

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14.

Zhao S et al. (2010) Regulation of cellular metabolism by protein lysine acetylation.

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15.

Orphanet article

Orphanet ID 121455 external link
16.

NCBI article

NCBI 435 external link
17.

OMIM.ORG article

Omim 608310 external link
18.

Wikipedia Artikel

Wikipedia DE (Argininosuccinat-Lyase) external link
Update: 14. August 2020
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