TREH (Trehalase) Gene
Trehalase: Structure, Function, and Clinical Significance
Gene Information Card
| Symbol | TREH |
|---|---|
| Full Name | Trehalase |
| Gene Type | Protein coding |
| Chromosomal Location | 11q23.3 |
| NCBI Gene ID | 11181 ncbi.nlm.nih.gov/gene/11181 |
| Ensembl ID | ENSG00000149294 |
| UniProt ID | O43280 |
| OMIM ID | 275355 |
| HGNC ID | 12266 |
| Aliases | TREA, trehalase (brush-border membrane glycoprotein) |
Description
The TREH gene encodes trehalase, a glycoside hydrolase that catalyzes the hydrolysis of trehalose, a disaccharide found in fungi, bacteria, and invertebrates, into two glucose molecules. Trehalase is expressed primarily in the small intestine and kidney, where it functions as a brush-border enzyme. Mutations in TREH are associated with trehalase deficiency, leading to trehalose intolerance and gastrointestinal symptoms upon ingestion of trehalose-containing foods.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Trehalase deficiency | Loss-of-function mutations in TREH reduce or abolish trehalase activity, preventing trehalose digestion and causing osmotic diarrhea, bloating, and abdominal pain after trehalose ingestion. | ClinVar, OMIM |
| Trehalose intolerance | Homozygous or compound heterozygous mutations in TREH result in trehalose malabsorption, with symptoms similar to lactose intolerance. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small intestine | 12.5 | High |
| Kidney | 8.3 | Medium |
| Liver | 1.2 | Low |
| Pancreas | 0.8 | Low |
| Testis | 0.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 (colon adenocarcinoma) | 15.0 | High expression; used as intestinal model |
| HEK 293 (embryonic kidney) | 6.5 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 1.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Pro35Leu) | Missense | <0.01% | Reduced enzymatic activity; associated with trehalase deficiency |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Loss of function; reported in trehalose intolerance |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Complete loss of protein; pathogenic |
Mutation functional classification
Loss of Function (LOF)
Most TREH mutations are loss-of-function, leading to reduced or absent trehalase activity and trehalose malabsorption.
Gain of Function (GOF)
No gain-of-function mutations have been reported for TREH.
Dominant Negative (DN)
No dominant-negative effects have been described for TREH mutations.
View complete mutation data：
Gene Ontology (GO)
| • alpha (GO:0004555) | • trehalose metabolic process (GO:0005991) |
| • plasma membrane (GO:0005886) | • hydrolase activity (GO:0016798) |
Pathways
• Trehalose degradation I (trehalase)
• Starch and sucrose metabolism
Protein Summary
Trehalase (UniProt O43280) is a 583-amino acid glycoprotein anchored to the brush-border membrane of intestinal and renal epithelial cells. It belongs to the glycoside hydrolase family 37 and specifically hydrolyzes trehalose into two D-glucose molecules. The enzyme is essential for dietary trehalose digestion; deficiency leads to trehalose intolerance. The protein has a single transmembrane domain and is N-glycosylated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TREH Knockout HEK293 Cell Line | EDJ-KQ7327 | Human | 11181 | Details Get a Quote |
| TREH Knockout HeLa Cell Line | EDJ-KQ55596 | Human | 11181 | Details Get a Quote |
| TREH Knockout A-549 Cell Line | EDJ-KQ64092 | Human | 11181 | Details Get a Quote |
| TREH Knockout HCT 116 Cell Line | EDJ-KQ72542 | Human | 11181 | Details Get a Quote |
