Gene: LYST

Alternate names for this Gene: CHS|CHS1

Gene Summary: This gene encodes a protein that regulates intracellular protein trafficking in endosomes, and may be involved in pigmentation. Mutations in this gene are associated with Chediak-Higashi syndrome, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants, though the full-length nature of some of these variants has not been determined.

Gene is located in Chromosome: 1

Location in Chromosome : 1q42.3

Description of this Gene: lysosomal trafficking regulator

Type of Gene: protein-coding

rs28942077 in LYST gene and Chediak-Higashi Syndrome PMID 11857544 2002 Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome.

PMID 24521565 2014 Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation.

PMID 10648412 2000 Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome.

PMID 28193763 2017 Neurologic involvement in patients with atypical Chediak-Higashi disease.

PMID 8896560 1996 Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome.

PMID 28145517 2017 WGS revealed two compound LYST mutations including a maternally inherited chr1:235969126G > A (rs80338652) and a novel paternally inherited chr1: 235915327A > AT, associated with autosomal recessive CHS.

PMID 28458669 2017 Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome Patients.

rs1078859 in LYST gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs4660116 in LYST gene and Lupus Erythematosus, Systemic PMID 26502338 2015 Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus.

PMID 19838195 2009 A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.