LYST: Lysosomal Trafficking Regulator Gene
Key regulator of lysosomal size and function, associated with Chediak-Higashi syndrome
Gene Information Card
| Symbol | LYST |
|---|---|
| Full Name | Lysosomal Trafficking Regulator |
| Gene Type | Protein coding |
| Chromosomal Location | 1q42.3 |
| NCBI Gene ID | 1130 ncbi.nlm.nih.gov/gene/1130 |
| Ensembl ID | ENSG00000143669 |
| UniProt ID | Q99698 |
| OMIM ID | 606897 |
| HGNC ID | 6738 |
| Aliases | CHS, CHS1, beige |
Description
The LYST gene encodes the lysosomal trafficking regulator protein, which is involved in the regulation of lysosomal size and the trafficking of lysosomal vesicles. Mutations in LYST cause Chediak-Higashi syndrome (CHS), a rare autosomal recessive disorder characterized by giant lysosomes, immunodeficiency, partial albinism, and neurological abnormalities. The protein is thought to function in membrane fusion and fission events within the endosomal-lysosomal system.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Chediak-Higashi syndrome | Loss-of-function mutations in LYST lead to defective lysosomal trafficking, resulting in abnormally enlarged lysosomes and impaired immune cell function. | OMIM #214500; ClinVar; NCBI GeneReviews |
| Hermansky-Pudlak syndrome (atypical) | Rare variants in LYST have been associated with features overlapping Hermansky-Pudlak syndrome, though primary evidence is limited. | OMIM; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 5.2 | Low |
| Spleen | 4.8 | Low |
| Lung | 3.1 | Low |
| Brain | 2.5 | Low |
| Kidney | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 3.5 | Low expression |
| HeLa (cervical) | 2.8 | Low expression |
| HEK 293 (embryonic kidney) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.3070C>T (p.Arg1024*) | Nonsense | Rare | Premature stop codon; loss of function; associated with Chediak-Higashi syndrome |
| c.11002delC (p.Leu3668Serfs*13) | Frameshift | Rare | Frameshift leading to truncated protein; loss of function; pathogenic in CHS |
| c.3073C>T (p.Arg1025Trp) | Missense | Rare | Missense variant; uncertain significance; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Most LYST mutations are loss-of-function, leading to truncated or unstable protein, resulting in Chediak-Higashi syndrome.
Gain of Function (GOF)
No gain-of-function mutations have been reported for LYST.
Dominant Negative (DN)
No dominant-negative mutations have been described for LYST.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Lysosome (KEGG: hsa04142)
• Endocytosis (KEGG: hsa04144)
Protein Summary
The LYST protein (UniProt Q99698) is a large, 3801-amino acid cytosolic protein containing a BEACH (Beige and Chediak-Higashi) domain and multiple WD40 repeats. It is involved in the regulation of lysosomal size and trafficking, likely through interactions with other proteins in the endosomal-lysosomal pathway. The protein is ubiquitously expressed at low levels and is essential for normal immune function, pigmentation, and neurological development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LYST Knockout HEK293 Cell Line | EDJ-KQ4273 | Human | 1130 | Details Get a Quote |
| LYST Knockout A-549 Cell Line | EDJ-KQ26756 | Human | 1130 | Details Get a Quote |
| LYST Knockout HCT 116 Cell Line | EDJ-KQ26757 | Human | 1130 | Details Get a Quote |
| LYST Knockout HeLa Cell Line | EDJ-KQ26758 | Human | 1130 | Details Get a Quote |
