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C201R
the loss of function mutant is associated with severe loss of retinal functionand early onset severe retinal dystrophy
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
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
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
G43A/G47A/G49A
the triple mutation completely abolishes the enzymatic activity of RDH10 without affecting its protein level
K214A
the mutation completely abolishes the enzymatic activity of RDH10 without affecting its protein level
K214R
the mutation completely abolishes the enzymatic activity of RDH10 without affecting its protein level
N169A
the mutation completely abolishes the enzymatic activity of RDH10 without affecting its protein level
N169D
the mutation completely abolishes the enzymatic activity of RDH10 without affecting its protein level
S197A
mutant retains significant enzymatic activities, although lower than that of wild type enzyme
S197C
the mutation completely abolishes the enzymatic activity of RDH10 without affecting its protein level
S197G
mutant retains significant enzymatic activities, although lower than that of wild type enzyme
S197T
the mutation completely abolishes the enzymatic activity of RDH10 without affecting its protein level
S197V
the mutation completely abolishes the enzymatic activity of RDH10 without affecting its protein level
Y210A
the mutation completely abolishes the enzymatic activity of RDH10 without affecting its protein level
Y210F
the mutation completely abolishes the enzymatic activity of RDH10 without affecting its protein level
L3R/L5R/R16Q/R19Q/R21Q
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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
additional information
protein that lacked all four hydrophobic segments remains associated with the membrane. Thus, the N-terminal and the C-terminal ends are both important for RoDH-4 activity and the removal of the putative transmembrane segments does not convert RoDH-4 into a soluble protein, suggesting additional sites of membrane interaction
additional information
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protein that lacked all four hydrophobic segments remains associated with the membrane. Thus, the N-terminal and the C-terminal ends are both important for RoDH-4 activity and the removal of the putative transmembrane segments does not convert RoDH-4 into a soluble protein, suggesting additional sites of membrane interaction
additional information
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RDH8 genotping and phenotyping in Han Chinese population, identification of single nucleotide polymorphisms in RDH8 gene: RDH855b (-1715G/A; rs3760753), RDH851 (-472C/T; rs2233789), and RDH8E5a (7826T/C; rs1644731), overview
additional information
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mutants lacking amino-terminal 18 or 30 amino acids do not localize to endoplasmic reticulum but to mitochondria instead. Deletion mutant lacking 28 C-terminal amino acids localizes both to microsomal and mitochondrial fractions. Deletion of both 18 N-terminal and 28 C-terminal amino acids leeds to overwhelming detection in mitochondria. Fusion of N-terminal 22 amino acids of enzyme with green fluorescent protein localizes in endoplasmic reticulum. Fusion of N-terminal 18 amino acids of enzyme with green fluorescent protein shows diffuse localization. Fusion of green fluorescent protein with C-terminal 29 amino acids of enzyme shows diffuse cytoplasmic and nuclear localization.
additional information
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
additional information
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
additional information
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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
additional information
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
additional information
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
additional information
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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
additional information
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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
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additional information
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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
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