EC Number   |
Protein Variants |
Reference |
|---|
   1.1.1.105 | C201R |
the loss of function mutant is associated with severe loss of retinal functionand early onset severe retinal dystrophy |
697796 |
| 1.1.1.105 | DELTAM1-Y13 |
truncated RoDH-4 that lacks the first thirteen amino acids of the N-terminal segment is partially active and exhibits the apparent Km value for androsterone similar to that of the wild-type enzyme, truncated mutant behaves as an integral membrane protein |
691736 |
| 1.1.1.105 | DELTAS295-L317 |
removal of 23 N-terminal hydrophobic amino acids results in significant loss of activity and a 14fold increase in the apparent Km value, truncated mutant behaves as an integral membrane protein |
691736 |
| 1.1.1.105 | DELTAY291-L317 |
removal of the C-terminal 27 amino acid segment results in about 600fold increase in the apparent Km value, truncated mutant behaves as an integral membrane protein |
691736 |
| 1.1.1.105 | G43A/G47A/G49A |
the triple mutation completely abolishes the enzymatic activity of RDH10 without affecting its protein level |
690842 |
| 1.1.1.105 | K214A |
the mutation completely abolishes the enzymatic activity of RDH10 without affecting its protein level |
690842 |
| 1.1.1.105 | K214R |
the mutation completely abolishes the enzymatic activity of RDH10 without affecting its protein level |
690842 |
| 1.1.1.105 | L3R/L5R/R16Q/R19Q/R21Q |
RDH1 mutant, deleting the positive charges from the C-terminal end of the leader, and inserting two arginine residues near the N-terminus of the signaling sequence causes 95% inversion from cytoplasmic to luminal, the mutant faces the lumen |
721724 |
| 1.1.1.105 | more |
generation of single knockout Rdhe2-/- and Rdhe2-/-,Rdhe2s-/- double-knockout mice (DKO) lacking both RDHE2 and RDHE2S using CRISPR-mediated gene editing. Phenotypes of femal DKO mice compared to male wild-type mice, overview. Elevated expression of hair-follicle growth and differentiation marker genes in DKO skin relative to littermate wild-type skin. The lack of expression of RDHE2 and RDHE2S results in enlargement of meibomian glands of DKO animals |
-, 761505 |
| 1.1.1.105 | more |
generation of single knockout Rdhe2s-/- and Rdhe2-/-,Rdhe2s-/- double-knockout mice (DKO) lacking both RDHE2 and RDHE2S using CRISPR-mediated gene editing. Phenotypes of femal DKO mice compared to male wild-type mice, overview. Elevated expression of hair-follicle growth and differentiation marker genes in DKO skin relative to littermate wild-type skin. The lack of expression of RDHE2 and RDHE2S results in enlargement of meibomian glands of DKO animals |
-, 761505 |
