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Literature summary for 3.2.1.62 extracted from

  • Behrendt, M.; Keiser, M.; Hoch, M.; Naim, H.Y.
    Impaired trafficking and subcellular localization of a mutant lactase associated with congenital lactase deficiency (2009), Gastroenterology, 136, 2295-2303.
    View publication on PubMed

Application

Application Comment Organism
medicine mutant form G1363S of LPH is involved in the pathogenesis of congenital lactase deficiency Homo sapiens

Cloned(Commentary)

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

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

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Substrates and Products (Substrate)

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

Synonyms Comment Organism
lactase phlorizin hydrolase
-
Homo sapiens
LPH
-
Homo sapiens