Lysosomal-trafficking regulator
The LYST gene encodes a trafficking regulator in lysosomes. Mutations cause an autosomal recessive lysosomal storage disease Chediak-Higashi syndrome.
Genetests:
Related Diseases:
References:
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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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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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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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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: Aug. 14, 2020