EC Number   |
Protein Variants |
Reference |
|---|
   1.14.15.16 | more |
development of truncated expression constructs for rat DELTA51CYP24A1. Adrenodoxin binding enhances the stability of the enzyme-substrate complex, despite lowering the ligand binding affinity of the free enzyme for calcitriol over 9fold. Truncation of CYP24A1's flexible N-terminus (DELTA51) improves the enzyme's ability to recruit substrate, without altering adrenodoxin's ability to stabilize the ligand-bound form |
736701 |
| 1.14.15.16 | more |
genotyping and phenotypes of diverse mutants of CYP24A1, overview |
736557 |
| 1.14.15.16 | L409S |
naturally occuring missense mutation, found on only one allele, no other mutation is found in exons or in at least 30 bp of each intron/exon junction. ThecL409S mutant has about 32% of wild-type 24-hydroxylase activity |
736557 |
| 1.14.15.16 | E143del |
naturally occuring mutation |
736557 |
| 1.14.15.16 | E147del |
naturally occuring mutation |
736557 |
| 1.14.15.16 | E149del |
naturally occuring mutation |
736557 |
| 1.14.15.16 | E151X |
naturally occuring mutation |
736557 |
| 1.14.15.16 | E322K |
naturally occuring mutation |
736557 |
| 1.14.15.16 | R159Q |
naturally occuring mutation |
736557 |
| 1.14.15.16 | R396W |
naturally occuring mutation |
736557 |
