LYST
Chr 1lysosomal trafficking regulator
Also known as: CHS, CHS1, Mauve
The protein regulates intracellular vesicle trafficking and fission, particularly of lysosomes and lytic granules, and controls phagosome maturation and TLR-mediated inflammatory responses in immune cells. Mutations cause Chediak-Higashi syndrome, a lysosomal storage disorder inherited in an autosomal recessive pattern. The disease results from loss of protein function, leading to defective vesicle trafficking and immune cell dysfunction.
Definitive — sufficient evidence for diagnostic panels
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
400 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 21 | 0 | 2 | 0 | 23 |
Likely Pathogenic | 8 | 0 | 0 | 0 | 8 |
VUS | 2 | 158 | 8 | 1 | 169 |
Likely Benign | 0 | 5 | 48 | 96 | 149 |
Benign | 0 | 0 | 0 | 1 | 1 |
| Total | 31 | 163 | 58 | 98 | 350 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
LYST · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools