LYZ (Lysozyme) Gene
Gene encoding lysozyme, an antimicrobial enzyme involved in innate immunity and amyloidosis
Gene Information Card
| Symbol | LYZ |
|---|---|
| Full Name | Lysozyme |
| Gene Type | Protein coding |
| Chromosomal Location | 12q15 |
| NCBI Gene ID | 4069 ncbi.nlm.nih.gov/gene/4069 |
| Ensembl ID | ENSG00000090382 |
| UniProt ID | P61626 |
| OMIM ID | 153450 |
| HGNC ID | 6740 |
| Aliases | LZM, LYZF1, LYZF2, LYZF3 |
Description
The LYZ gene encodes lysozyme, an antimicrobial enzyme that hydrolyzes the peptidoglycan layer of bacterial cell walls. It is expressed in various tissues and secretions, playing a key role in innate immunity. Mutations in LYZ are associated with hereditary systemic amyloidosis, where misfolded lysozyme forms amyloid fibrils.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary systemic amyloidosis | Missense mutations (e.g., p.Ile56Thr, p.Asp67His) cause lysozyme misfolding and aggregation into amyloid fibrils, leading to tissue deposition and organ dysfunction. | ClinVar, OMIM |
| Amyloidosis, renal | Amyloid deposition in kidneys due to LYZ mutations results in proteinuria and progressive renal failure. | OMIM |
| Amyloidosis, gastrointestinal | Lysozyme amyloid deposits in the gastrointestinal tract cause motility disorders and malabsorption. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.8 | Medium |
| Salivary gland | 11.5 | Medium |
| Lung | 9.2 | Medium |
| Small intestine | 8.7 | Medium |
| Kidney | 6.3 | Low |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HL-60 (leukemia) | 15.2 | High expression |
| K-562 (leukemia) | 12.0 | Medium expression |
| A549 (lung carcinoma) | 8.5 | Medium expression |
| HeLa (cervical carcinoma) | 4.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Ile56Thr (c.167T>C) | Missense | Rare | Amyloidogenic; causes hereditary systemic amyloidosis |
| p.Asp67His (c.199G>C) | Missense | Rare | Amyloidogenic; associated with renal and gastrointestinal amyloidosis |
| p.Trp64Arg (c.190T>C) | Missense | Rare | Amyloidogenic; reported in familial amyloidosis |
Mutation functional classification
Loss of Function (LOF)
Not typically associated with LOF; mutations primarily cause gain-of-toxic function via amyloid aggregation.
Gain of Function (GOF)
Amyloidogenic mutations confer a gain-of-toxic function by promoting misfolding and fibril formation.
Dominant Negative (DN)
Not established; amyloidogenic mutations act via dominant toxic aggregation rather than dominant-negative interference.
View complete mutation data：
Gene Ontology (GO)
| • lysozyme activity (GO:0003796) | • cell wall macromolecule catabolic process (GO:0016998) |
| • defense response to bacterium (GO:0042742) | • extracellular region (GO:0005576) |
| • extracellular space (GO:0005615) |
Pathways
• KEGG: hsa04142 (Lysosome)
• Reactome: R-HSA-6798695 (Neutrophil degranulation)
• Reactome: R-HSA-168249 (Innate Immune System)
Protein Summary
Lysozyme (UniProt P61626) is a 148-amino acid secreted enzyme that cleaves the β-1,4 glycosidic bond between N-acetylmuramic acid and N-acetylglucosamine in bacterial peptidoglycan. It is abundant in tears, saliva, milk, mucus, and neutrophils. Mutations in the LYZ gene cause hereditary systemic amyloidosis, a rare autosomal dominant disorder characterized by deposition of lysozyme amyloid fibrils in various organs, particularly the kidneys and gastrointestinal tract.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LYZ Knockout HEK293 Cell Line | EDJ-KQ5154 | Human | 4069 | Details Get a Quote |
| LYZL4 Knockout HEK293 Cell Line | EDJ-KQ9265 | Human | 131375 | Details Get a Quote |
| LYZL6 Knockout HEK293 Cell Line | EDJ-KQ14168 | Human | 57151 | Details Get a Quote |
| LYZ Knockout HCT 116 Cell Line | EDJ-KQ28128 | Human | 4069 | Details Get a Quote |
| LYZL1 Knockout HEK293 Cell Line | EDJ-KQ51853 | Human | 84569 | Details Get a Quote |
| LYZL2 Knockout HEK293 Cell Line | EDJ-KQ51939 | Human | 119180 | Details Get a Quote |
| LYZ Knockout HeLa Cell Line | EDJ-KQ53820 | Human | 4069 | Details Get a Quote |
| LYZL6 Knockout HeLa Cell Line | EDJ-KQ56815 | Human | 57151 | Details Get a Quote |
| LYZL1 Knockout HeLa Cell Line | EDJ-KQ57614 | Human | 84569 | Details Get a Quote |
| LYZL2 Knockout HeLa Cell Line | EDJ-KQ58037 | Human | 119180 | Details Get a Quote |
| LYZL4 Knockout HeLa Cell Line | EDJ-KQ58294 | Human | 131375 | Details Get a Quote |
| LYZ Knockout A-549 Cell Line | EDJ-KQ62300 | Human | 4069 | Details Get a Quote |
| LYZL6 Knockout A-549 Cell Line | EDJ-KQ65323 | Human | 57151 | Details Get a Quote |
| LYZL1 Knockout A-549 Cell Line | EDJ-KQ66112 | Human | 84569 | Details Get a Quote |
| LYZL2 Knockout A-549 Cell Line | EDJ-KQ66524 | Human | 119180 | Details Get a Quote |
