TREH Chromosome 11

Trehalase
1 variant 1 Health Risk

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What This Gene Does
This gene encodes an enzyme that hydrolyses trehalose, a disaccharide formed from two glucose molecules found mainly in fungi, plants, and insects. A partial duplication of this gene is located adjacent to this locus on chromosome 11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
Gene Info
Gene Group
Glycoside hydrolase family
Locus Type
gene with protein product
Location
11q23.3
Ensembl
ENSG00000118094
Associated Conditions (2)
alpha
alpha-Trehalase deficiency
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS527655595 Health Risk Conflicting classifications of pathogenicity alpha, alpha-Trehalase deficiency, alpha
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