Trehalase
The TREH gene encodes an enzyme that cleaves trehalose, a disaccharide formed in fungi. Mutations cause autosomal dominant trehalase deficiency that is characterized by gastrointestinal symptoms after the ingestion of young mushrooms.
Genetests:
Research |
Method |
Carrier testing |
Turnaround |
5 days |
Specimen type |
genomic DNA |
Related Diseases:
References:
1. |
Oesterreicher TJ et al. (2001) Cloning, characterization and mapping of the mouse trehalase (Treh) gene.
|
2. |
Ruf J et al. (1990) Rabbit small intestinal trehalase. Purification, cDNA cloning, expression, and verification of glycosylphosphatidylinositol anchoring.
|
3. |
Sasai-Takedatsu M et al. (1996) Human trehalase: characterization, localization, and its increase in urine by renal proximal tubular damage.
|
4. |
Ishihara R et al. (1997) Molecular cloning, sequencing and expression of cDNA encoding human trehalase.
|
5. |
NCBI article
NCBI 11181
|
6. |
OMIM.ORG article
Omim 275360
|
7. |
Orphanet article
Orphanet ID 158077
|
8. |
Wikipedia article
Wikipedia EN (Trehalase)
|
Update: Aug. 14, 2020