Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Lysosomal-trafficking regulator

The LYST gene encodes a trafficking regulator in lysosomes. Mutations cause an autosomal recessive lysosomal storage disease Chediak-Higashi syndrome.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Chediak-Higashi syndrome



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

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

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

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

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

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

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

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

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

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Update: Aug. 14, 2020
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