EC Number   |
Protein Variants |
Reference |
|---|
   3.7.1.4 | H269A |
the kcat value for phloretin is decreased at least by 1 order of magnitude, whereas the corresponding Km value is barely affected compared to the wild type enzyme |
750528 |
| 3.7.1.4 | I162A |
the mutant completely loses catalytic activity towards phloretin |
750528 |
| 3.7.1.4 | more |
deletions of the LPH 5' flanking sequence and fusion 5' to the human growth hormone reporter gene |
675587 |
| 3.7.1.4 | more |
Gata4 mutant, LPH mRNA abundance is significantly attenuated |
675975 |
| 3.7.1.4 | more |
hypolactasia seems to be strongly corretated with genotype C/C of the genetic variant C->T-13910 upstream of the lactase-phlorizin hydrolase gene |
673123 |
| 3.7.1.4 | more |
mutation of His123, His251, Glu154 and Glu255 (conserved zinc binding residues) results in variants that were either poorly expressed, or of much reduced activity. Mutation of Tyr115 and His203, thought to bind the phenol groups in the 1-and 3-positions of the phloroglucinol ring respectively, results in variants of 15-fold reduced activity and an inactive variant |
735304 |
| 3.7.1.4 | more |
the genetic variant C/T-13910 upstream of the lactase-phlorizin hydrolase gene is strongly correlated with the lactase persistence/nonperistence trait |
687838 |
| 3.7.1.4 | more |
the mutations C/T-13910 and G/A-22018 of the lactase-phlorizin hydrolase gene are correlated with lactose absorption |
685892 |
| 3.7.1.4 | N1340Q |
the variant lacks the closest potential N-glycosylation site to Asp1338 |
749964 |
| 3.7.1.4 | N1814Q |
the variant lacks the N-glycosylation site in the domain IV |
749964 |
