E. coli biotin ligase
(BirA) is highly specific in covalently attaching biotin to the 15
amino
acid AviTag peptide. This recombinant protein was biotinylated in
vivo
by AviTag-BirA technology, which method is BriA catalyzes amide
linkage
between the biotin and the specific lysine of the AviTag.
其他:
在線留言
中文名稱:
Recombinant Human Cytochrome P450 4V2(CYP4V2) ,partial
The tag type will
be
determined during production process. If you have specified tag
type, please tell us and we will develop the specified tag
preferentially.
產(chǎn)品提供形式:
Lyophilized powder
Note: We will
preferentially ship the format that we have in stock, however,
if you have any special requirement for the format, please
remark your requirement when placing the order, we will prepare
according to your demand.
復(fù)溶:
We recommend that this vial be briefly centrifuged
prior
to opening to bring the contents to the bottom. Please reconstitute
protein in deionized sterile water to a concentration of 0.1-1.0
mg/mL.We recommend to add 5-50% of glycerol (final concentration)
and
aliquot for long-term storage at -20℃/-80℃. Our default final
concentration of glycerol is 50%. Customers could use it as
reference.
儲存條件:
Store at -20°C/-80°C upon receipt, aliquoting is
necessary for
mutiple use. Avoid repeated freeze-thaw cycles.
保質(zhì)期:
The shelf life is related to many factors, storage
state,
buffer ingredients, storage temperature and the stability of the
protein
itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C.
The
shelf life of lyophilized form is 12 months at -20°C/-80°C.
貨期:
Delivery time may
differ from different purchasing way or location, please kindly
consult your local distributors for specific delivery time.
Note: All of our
proteins are default shipped with normal blue ice packs, if you
request to ship with dry ice, please communicate with us in
advance
and extra fees will be charged.
注意事項:
Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
A cytochrome P450 monooxygenase involved in fatty acid metabolism in the eye. Catalyzes the omega-hydroxylation of polyunsaturated fatty acids (PUFAs) docosahexaenoate (DHA) and its precursor eicosapentaenoate (EPA), and may contribute to the homeostasis of these retinal PUFAs. Omega hydroxylates saturated fatty acids such as laurate, myristate and palmitate, the catalytic efficiency decreasing in the following order: myristate > laurate > palmitate (C14>C12>C16). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase).
基因功能參考文獻(xiàn):
To the best of our knowledge, this study represents the largest effort to determine the genetic alterations underlying Bietti crystalline dystrophy (BCD) in Spain to date. Our results show that analysis of CYP4V2 variants is required for a reliable diagnosis of BCD. PMID: 29691984
This is the first report of a homozygous R400C mutation in CYP4V2 with protein modelling showing high likelihood of enzyme dysfunction. The comprehensive long-term clinical follow-up provides insight into disease progression and highlights possible anti-inflammatory modulation of disease severity. PMID: 28698241
Bietti crystalline dystrophy patients with CYP4V2 mutations showed more severe macular choroid atrophy as compared to EYS-related RP patients. These different damage patterns suggest differences in choroidal expression between CYP4V2 and EYS. PMID: 27658286
In summary, we confirmed that the choroideremia-like fundus appearance of our patient was caused by the novel homozygous CYP4V2 variant. PMID: 27348340
Photoreceptor outer segment and apical retinal pigment epithelium abnormalities underlie the relatively extensive retinal dysfunction observed in relatively early-stage Bietti crystalline dystrophy. Intravitreal Bevacizumab was effective in treating CNV in this setting. PMID: 27028354
Expression levels of both CYP4V2 mRNA and protein were significantly reduced after treatment with peroxisome proliferator-activated receptor gamma (PPARgamma) antagonist GW9662 PMID: 28729181
Nineteen missense, 4 nonsense, 2 deletion, 2 splice site, and 1 insertion-deletion mutations were identified in in patients with Bietti crystalline corneoretinal dystrophy. The age of the c.802-8_810del17insGC mutation was estimated to be 1040-8200 generations in the Chinese and 300-1100 generations in the Japanese populations. PMID: 28051075
We found that the subfoveal choroidal thickness and the outer choroidal vascular area were smaller in Bietti Crystalline Dystrophy patients with CYP4V2 mutations than in age-, sex-, AL-, and logMAR VA-matched RP patients with EYS mutations or age-, sex-, and AL-matched healthy controls. PMID: 28763560
Our findings broaden the spectrum of CYP4V2 mutations that cause BCD and the phenotypic spectrum of the disease in Chinese families. These results will be useful for the genetic diagnosis of BCD, genetic consultation, and gene therapy in the future. PMID: 26971461
The results of this study demonstrate that causative variants identified in the CTNNA1 and CYP4V2 genes are also associated with Leber Congenital Amaurosis. PMID: 28453600
Genetic analysis of the CYP4V2 gene revealed a c.802-8_810delinsGC homozygote mutation. PMID: 26865810
In Bietti crystalline dystrophy patients with CYP4V2 mutations, cone density remained for visual dysfunction by evaluation using high-resolution AO-SLO. PMID: 26521715
Four novel mutations were identified, contributing to the spectrum of CYP4V2 mutations associated with Bietti's crystalline dystrophy. PMID: 25593508
cytochrome P450 family 4 subfamily V polypeptide 2 (CYP4V2) c.219T>A (p.F73L) mutation may be a recurrent mutation in Chinese patients with Bietti crystalline dystrophy (BCD). PMID: 24739949
Likely disease-causing variants were identified in 34 chromosomes from 17 families. Seven were novel, including p.Met66Arg, found in all 11 patients from 8 families of South Asian descent. PMID: 24480711
This finding suggests that the crystals in the lens of patients with Bietti crystalline corneoretinopathy may be produced in the same way as corneal or retinal crystalline deposits and therefore result from a systemic abnormality of lipid metabolism. PMID: 23793346
The authors identified a case of Bietti crystalline dystrophy with central and paracentral keratopathy and the molecular analysis of the causative gene in a Spanish family. PMID: 23538635
The entire coding region and adjacent intronic regions of the CYP4V2 gene were sequenced. Five mutations were identified in the 29-year-old male with Bietti's crystalline dystrophy. PMID: 23242590
Sequencing of CYP4V2 revealed nine sequence variants in four unrelated families and six isolated individuals with BCD. PMID: 23221965
Two mutations in CYP4V2 were found in three Lebanese families with Bietti crystalline dystrophy: p.I111T (c.332T>C) in exon 3 in two families and the novel p.V458M (c.1372G>A) mutation in exon 9 in one family. PMID: 22605929
Compound heterozygous c.802-8_810del17insGC and c.1091-2A>G mutations of the CYP4V2 gene were identified as causative mutations for retinitis pigmentosa PMID: 22693542
This study identified the most sensitive functional methods for assessing Bietti's crystalline dystrophy patients, and the significance of pupillary light reflex in the advanced stages. PMID: 21892605
Four novel benign variations in the CYP4V2 gene (three in exons and one in an intron) were observed in the patient cohort with Bietti crystalline dystrophy associated with choroidal neovascularization. PMID: 21850171
these results expand the mutation spectrum of CYP4V2 and demonstrate an overview of the CYP4V2 mutation spectrum and its frequency in families with Bietti crystalline corneoretinal dystrophy. PMID: 21565171
REVIEW: genetic analyses have identified a wide spectrum of mutations in the CYP4V2gene from patients suffering from Bietti's crystalline corneoretinal dystrophy, and mutations in theCYP4F22 gene have been linked to lamellar ichthyosis PMID: 21540472
We describe a patient with Bietti crystalline dystrophy with a CYP4V2 gene mutation and typical leukocyte inclusions who showed the classical retinal lesions but had a normal electroretinogram. PMID: 21385027
crystal-like deposits may appear on the lens capsule of patients with Bietti crystalline corneoretinal dystrophy(BCD) associated with a mutation in the CYP4V2 gene. PMID: 19508456
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) PMID: 20379614
Defective omega-oxidation of ocular fatty acids/lipids secondary to mutations in the CYP4V2 gene appears to be a plausible mechanism underlying the abnormal lipid metabolism of Bietti's crystalline dystrophy. PMID: 19661213
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) PMID: 20205591
Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2 PMID: 15042513
Our findings suggest that the IVS6 to 8delTCATACAGGTCATCGCG/insGC mutation is a common mutation in Japanese patients with BCD (Bietti's crystalline corneoretinal dystrophy) PMID: 15860296
In two patients, a homozygous and compound heterozygote, deletion/insertion mutations and novel nonsense (p.W340X) mutations were identified. PMID: 16088246
Our finding expands the spectrum of CYP4V2 mutations causing BCD, and further confirms the role of CYP4V2 in the pathogenesis of BCD (Bietti crystalline corneoretinal dystrophy). PMID: 16179904
This study identified novel mutations in the CYP4V2 gene as a cause of BCD. A high carrier frequency for the 15-bp deletion in exon 7 may exist in the Singapore population. PMID: 16186368
A homozygous mutation was identified in two of the unrelated patients, and only a heterozygous change was detected in the third. These data indicate that c.802-8del17bp/insGC may be a frequent mutation in CYP4V2 gene PMID: 17013694
CYP4V2 gene mutations may have a role in Bietti crystalline corneoretinal dystrophy PMID: 17249554
BCD (Bietti's crystalline dystrophy) patients with homozygous IVS6-8del17bp/insGC or compound heterozygous IVS6-8del17bp/insGC and IVS8-2A>G mutations appeared to have more severe disease phenotype based on electrophysiological testing. PMID: 17962476
SNPs in the region around the SNP in CYP4V2 (rs13146272) were associated with both deep vein thrombosis and factor XI levels. PMID: 18349091
Observational study of gene-disease association. (HuGE Navigator) PMID: 19583818
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) PMID: 19278955
Observational study of gene-disease association. (HuGE Navigator) PMID: 18349091