Application | Comment | Organism |
---|---|---|
medicine | mutant form G1363S of LPH is involved in the pathogenesis of congenital lactase deficiency | Homo sapiens |
Cloned (Comment) | Organism |
---|---|
mutant G1363S introduced into the wild-type LPH cDNA cloned in the vector pSG5. Mutant transiently expressed in COS-1 cells | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
G1363S | the mutant protein is malfolded and enzymatically inactive and can not exit the endoplasmic reticulum. The mutation creates an additional N-glycosylation site that is characteristic of a temperature-sensitive protein. The potential glycosylation site generated by the mutation is not the cause of defective trafficking of LPH-G1363S or its reduced enzymatic activity. Intracellular transport and enzymatic activity, but not correct folding are partially restored by expression at 20°C. The mutant is responsible for an increased turnover rate | Homo sapiens |
G1363S/N1361A | eliminates the N-glycosylation site, does not restore the features of wild-type LPH | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
lactose + H2O | - |
Homo sapiens | D-glucose + D-galactose | - |
? | |
phlorizin + H2O | - |
Homo sapiens | phloretin + beta-D-glucose | - |
? |
Synonyms | Comment | Organism |
---|---|---|
lactase phlorizin hydrolase | - |
Homo sapiens |
LPH | - |
Homo sapiens |