LYST

Chr 1q42.3

lysosomal trafficking regulator

Aliases:: CHS, Mauve
MANE:: ENST00000389793.7

OMIM: 606897 ↗NCBI: 1130 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

LYST · Q99698-2isoform

No predicted structure exists for the canonical Q99698 sequence; metrics below describe this isoform.

v62025-08-01

Predicted Aligned Error matrix for LYST — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

66.9/ 100

Low

2,001 residues

Confidence breakdown

Very high(≥ 90)10%
Confident(70–90)48%
Low(50–70)15%
Very low(< 50)28%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Adult onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder
BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus
BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders
BIALLELIC, autosomal or pseudoautosomal
COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

Chediak-Higashi syndrome
0.84
Chédiak-Higashi syndrome
0.82
Parkinson disease
0.48
hereditary disease
0.47
Spastic paraplegia
0.47
Parkinsonism
0.46
peripheral neuropathy
0.46
hair color
0.43
systemic lupus erythematosus
0.38
attenuated Chédiak-Higashi syndrome
0.38

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Lysosomal-trafficking regulator

Adapter protein that regulates and/or fission of intracellular vesicles such as lysosomes (PubMed:11984006, PubMed:25216107). Might regulate trafficking of effectors involved in exocytosis (PubMed:25425525). In cytotoxic T-cells and natural killer (NK) cells, has role in the regulation of size, number and exocytosis of lytic granules (PubMed:26478006). In macrophages and dendritic cells, regulates phagosome maturation by controlling the conversion of early phagosomal compartments into late phagosomes (By similarity). In macrophages and dendritic cells, specifically involved in TLR3- and TLR4-induced production of pro-inflammatory cytokines by regulating the endosomal TLR3- TICAM1/TRIF and TLR4- TICAM1/TRIF signaling pathways (PubMed:27881733)