Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Lysosomaler Transportregulator

Das LYST-Gen kodiert ein Protein, welches als lysosomaler Transportregulator fungiert. Mutationen führen zur autosomal rezessiven lysosomalen Speicherkrankheit Chediak-Higashi-Syndrom.

Gentests:

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

Verknüpfte Erkrankungen:

Chediak-Higashi-Syndrom
LYST

Referenzen:

1.

Jenkins NA et al. (1991) Nidogen/entactin (Nid) maps to the proximal end of mouse chromosome 13 linked to beige (bg) and identifies a new region of homology between mouse and human chromosomes.

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2.

Perou CM et al. (1996) Identification of the murine beige gene by YAC complementation and positional cloning.

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3.

Barbosa MD et al. (1996) Identification of the homologous beige and Chediak-Higashi syndrome genes.

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4.

Fukai K et al. (1996) Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg).

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5.

Barrat FJ et al. (1996) Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43.

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6.

Nagle DL et al. (1996) Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome.

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7.

Karim MA et al. (1997) Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein.

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8.

Barbosa MD et al. (1997) Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse.

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9.

None (1997) Homologous pigmentation mutations in human, mouse and other model organisms.

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10.

Faigle W et al. (1998) Deficient peptide loading and MHC class II endosomal sorting in a human genetic immunodeficiency disease: the Chediak-Higashi syndrome.

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11.

Dufourcq-Lagelouse R et al. (1999) Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1.

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12.

Kunieda T et al. (2000) Localization of the locus responsible for Chediak-Higashi syndrome in cattle to bovine chromosome 28.

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13.

Karim MA et al. (2002) Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome.

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14.

Runkel F et al. (2006) Grey, a novel mutation in the murine Lyst gene, causes the beige phenotype by skipping of exon 25.

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15.

Köberlin MS et al. (2015) A Conserved Circular Network of Coregulated Lipids Modulates Innate Immune Responses.

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Update: 14. August 2020
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