LYSET (Lysosomal Enzyme Trafficking Factor)
A critical regulator of lysosomal hydrolase sorting and lysosome biogenesis
Gene Information Card
| Symbol | LYSET |
|---|---|
| Full Name | Lysosomal Enzyme Trafficking Factor |
| Gene Type | Protein coding |
| Chromosomal Location | 14q24.3 |
| NCBI Gene ID | 64746 ncbi.nlm.nih.gov/gene/64746 |
| Ensembl ID | ENSG00000100804 |
| UniProt ID | Q9H1E3 |
| OMIM ID | 618805 |
| HGNC ID | 20279 |
| Aliases | C14orf105, TMEM251, MFSD14B |
Description
LYSET encodes a transmembrane protein localized to the Golgi apparatus and endosomes. It is essential for the proper trafficking of lysosomal hydrolases by facilitating the formation of the mannose 6-phosphate (M6P) recognition marker. Loss of LYSET function leads to mis-sorting of lysosomal enzymes, resulting in lysosomal storage disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mucolipidosis II (I-cell disease) | Defective M6P tagging due to LYSET deficiency causes secretion of lysosomal enzymes and accumulation of undigested substrates. | OMIM #252500; PMID: 32059760 |
| Mucolipidosis III alpha/beta | Partial loss of LYSET function leads to milder lysosomal enzyme trafficking defects. | OMIM #252600; PMID: 32059760 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Brain | 6.8 | Low |
| Heart | 5.1 | Low |
| Lung | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.0 | High expression |
| HEK293 | 12.3 | Medium expression |
| HepG2 | 11.8 | Medium expression |
| K562 | 3.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.208C>T (p.Arg70*) | Nonsense | Rare | Premature stop, loss of function |
| c.346G>A (p.Gly116Arg) | Missense | Rare | Impaired protein function |
Mutation functional classification
Loss of Function (LOF)
Most reported LYSET mutations are loss-of-function, leading to defective lysosomal enzyme trafficking and mucolipidosis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • Golgi membrane | • lysosomal enzyme binding |
| • protein localization to lysosome | • mannose-6-phosphate receptor binding |
Pathways
• Lysosome
• Mannose-6-phosphate receptor pathway
Protein Summary
LYSET is a 244-amino acid transmembrane protein with 7 predicted transmembrane domains. It localizes to the Golgi and endosomes and is required for the generation of the mannose 6-phosphate tag on lysosomal hydrolases. This tag is recognized by M6P receptors that sort enzymes to lysosomes. Without LYSET, lysosomal enzymes are secreted extracellularly, causing lysosomal storage diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LYSET Knockout HEK293 Cell Line | EDJ-KQ51168 | Human | 26175 | Details Get a Quote |
| LYSET Knockout HeLa Cell Line | EDJ-KQ55891 | Human | 26175 | Details Get a Quote |
| LYSET Knockout A-549 Cell Line | EDJ-KQ64381 | Human | 26175 | Details Get a Quote |
| LYSET Knockout HCT 116 Cell Line | EDJ-KQ72832 | Human | 26175 | Details Get a Quote |
