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T114I |
Km-value for 5alpha-cholest-7-en-3beta-ol is 7.5fold higher than that of wild-type activity
L193R
the mutation impairs enzyme function
G234A
no activity
G234A
inactive mutant enzyme
G234D
2% of wild-type activity
H147E
no activity
H147E
inactive mutant enzyme
H147L
no activity
H147L
inactive mutant enzyme
H151E
no activity
H151E
inactive mutant enzyme
H151l
no activity
H151l
inactive mutant enzyme
H161E
no activity
H161E
inactive mutant enzyme
H161L
no activity
H161L
inactive mutant enzyme
H164L
no activity
H164L
inactive mutant enzyme
H165L
no activity
H165L
inactive mutant enzyme
H203L
reduced activity
H203L
13% of wild-type activity
H222E
reduced activity
H222E
6% of wild-type activity
H222L
no activity
H222L
inactive mutant enzyme
H238E
no activity
H238E
inactive mutant enzyme
H238L
no activity
H238L
inactive mutant enzyme
H241L
no activity
H241L
inactive mutant enzyme
H242L
no activity
H242L
inactive mutant enzyme
K115L
2times higher activity than wild-type
K115L
Km-value for 5alpha-cholest-7-en-3beta-ol is 2.8fold higher than that of wild-type activity
P175A
wild-type activity
P175A
as active as wild-type enzyme
P175V
4times higher activity than wild-type
P175V
Km-value for 5alpha-cholest-7-en-3beta-ol is 2.7fold higher than that of wild-type activity
P201A
25% of wild-type activity
P201A
20% of wild-type activity
T114S
28times higher activity than wild-type
T114S
Km-value for 5alpha-cholest-7-en-3beta-ol is 7.6fold higher than that of wild-type activity
G111R
naturally occurring mutation, the mutant is obtained from a patient with prosthetic valve endocarditis, the mutant shows reduction in sterol desaturase activity and resistance to azole and echinocandin antifungals, replacement of both mutant alleles in the resistant isolate with the susceptible isolate's allele restores wild-type susceptibility to all azoles and echinocandins tested.
G111R
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naturally occurring mutation, the mutant is obtained from a patient with prosthetic valve endocarditis, the mutant shows reduction in sterol desaturase activity and resistance to azole and echinocandin antifungals, replacement of both mutant alleles in the resistant isolate with the susceptible isolate's allele restores wild-type susceptibility to all azoles and echinocandins tested.
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additional information
mutant CAAL76 with a 13 bp deletion leading to a truncated enzyme (DELTA366-378) shows impaired enzyme function
additional information
an ERG3 deletion construct for Candida albicans is generated by amplifying an ApaI-XhoI containing fragment consisting of flanking regions upstream from positions -350 to +39 relative to the start codon of Candida albicans ERG3 using primers CaERG3A-F and CaERG3B-R, as well as a NotI-SacIIcontaining fragment consisting of flanking regions from positions +997 to +1677 downstream of the start codon using primers CaERG3C-F and CaERG3D-R. These upstream and downstream fragments are cloned upstream and downstream, respectively, of the SAT1-flipper cassette in plasmid pSFS2, resulting in pCaERG3M1
additional information
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an ERG3 deletion construct for Candida albicans is generated by amplifying an ApaI-XhoI containing fragment consisting of flanking regions upstream from positions -350 to +39 relative to the start codon of Candida albicans ERG3 using primers CaERG3A-F and CaERG3B-R, as well as a NotI-SacIIcontaining fragment consisting of flanking regions from positions +997 to +1677 downstream of the start codon using primers CaERG3C-F and CaERG3D-R. These upstream and downstream fragments are cloned upstream and downstream, respectively, of the SAT1-flipper cassette in plasmid pSFS2, resulting in pCaERG3M1
additional information
an ERG3 deletion construct for Candida parapsilosis is generated by amplifying an ApaI-XhoI-containing fragment consisting of flanking regions upstream from positions -280 to +51 relative to the start codon of Candida parapsilosis ERG3 using primers ERG3-A and ERG3-B, as well as a NotI-SacII-containing fragment consisting of downstream flanking regions from positions +1047 to +1868 using primers ERG3-C and ERG3-D. These upstream and downstream fragments of ERG3 are cloned upstream and downstream, respectively, of the SAT1-flipper cassette in plasmid pSFS2 to result in plasmid p77ERG3
additional information
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an ERG3 deletion construct for Candida parapsilosis is generated by amplifying an ApaI-XhoI-containing fragment consisting of flanking regions upstream from positions -280 to +51 relative to the start codon of Candida parapsilosis ERG3 using primers ERG3-A and ERG3-B, as well as a NotI-SacII-containing fragment consisting of downstream flanking regions from positions +1047 to +1868 using primers ERG3-C and ERG3-D. These upstream and downstream fragments of ERG3 are cloned upstream and downstream, respectively, of the SAT1-flipper cassette in plasmid pSFS2 to result in plasmid p77ERG3
additional information
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an ERG3 deletion construct for Candida parapsilosis is generated by amplifying an ApaI-XhoI-containing fragment consisting of flanking regions upstream from positions -280 to +51 relative to the start codon of Candida parapsilosis ERG3 using primers ERG3-A and ERG3-B, as well as a NotI-SacII-containing fragment consisting of downstream flanking regions from positions +1047 to +1868 using primers ERG3-C and ERG3-D. These upstream and downstream fragments of ERG3 are cloned upstream and downstream, respectively, of the SAT1-flipper cassette in plasmid pSFS2 to result in plasmid p77ERG3
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additional information
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enzyme deficiency leads to lathosterolosis, a defect of cholesterol biosynthesis, phenotype, detailed overview
additional information
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generation of mice carrying a modified allele of sterol C5-desaturase (Sc5d), the gene encoding the enzyme that converts lathosterol to 7-dehydrocholesterol (7-DHC) by blastocyst injection, causing a reading frame shift and thereby likely triggering nonsense mediated decay of the aberrant transcript, such that Sc5d expression can be inactivated using the Cre/lox site-specific recombination system. By crossing to mice with tissue-specific expression of Cre or CreER2 (Cre/estrogen receptor), two lines of transgenic mice are generated. One line has constitutive keratinocyte-specific inactivation of Sc5d (Sc5dk14KO). The other line (Sc5dk14KOi) has tamoxifen-inducible keratinocyte-specific inactivation of Sc5d. Breeding scheme, overview. Confirmation of SC5D loss in keratinocytes by IHC and by measuring vitamin D3 level in the blood
additional information
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generation of mice carrying a modified allele of sterol C5-desaturase (Sc5d), the gene encoding the enzyme that converts lathosterol to 7-dehydrocholesterol (7-DHC) by blastocyst injection, causing a reading frame shift and thereby likely triggering nonsense mediated decay of the aberrant transcript, such that Sc5d expression can be inactivated using the Cre/lox site-specific recombination system. By crossing to mice with tissue-specific expression of Cre or CreER2 (Cre/estrogen receptor), two lines of transgenic mice are generated. One line has constitutive keratinocyte-specific inactivation of Sc5d (Sc5dk14KO). The other line (Sc5dk14KOi) has tamoxifen-inducible keratinocyte-specific inactivation of Sc5d. Breeding scheme, overview. Confirmation of SC5D loss in keratinocytes by IHC and by measuring vitamin D3 level in the blood
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