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  4. Recombinant Human Sterol 26-hydroxylase, mitochondrial (CYP27A1 CYP27)

Recombinant Human Sterol 26-hydroxylase, mitochondrial (CYP27A1 CYP27)

  • 中文名稱：
  • 貨號：
    CSB-YP880560HU
  • 規(guī)格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
  • 貨號：
    CSB-EP880560HU
  • 規(guī)格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
  • 貨號：
    CSB-EP880560HU-B
  • 規(guī)格：
  • 來源：
    E.coli
  • 共軛：
    Avi-tag Biotinylated

    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：
  • 中文名稱：
  • 貨號：
    CSB-BP880560HU
  • 規(guī)格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
  • 貨號：
    CSB-MP880560HU
  • 規(guī)格：
  • 來源：
    Mammalian cell
  • 其他：

產(chǎn)品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    CP27A
  • Uniprot No.：
  • 別名：
    Sterol 26-hydroxylase, mitochondrial; EC 1.14.15.15; 5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol 26-hydroxylase; Cytochrome P-450C27/25; Cytochrome P450 27; Sterol 27-hydroxylase; Vitamin D(3; 25-hydroxylase; CYP27A1 CYP27
  • 種屬：
    Homo sapiens (Human)
  • 蛋白標(biāo)簽：
    Tag?type?will?be?determined?during?the?manufacturing?process.
    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：
    Liquid or 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.
  • Datasheet ：
    Please contact us to get it.

產(chǎn)品評價

靶點(diǎn)詳情

  • 功能：
    Cytochrome P450 monooxygenase that catalyzes regio- and stereospecific hydroxylation of cholesterol and its derivatives. Hydroxylates (with R stereochemistry) the terminal methyl group of cholesterol side-chain in a three step reaction to yield at first a C26 alcohol, then a C26 aldehyde and finally a C26 acid. Regulates cholesterol homeostasis by catalyzing the conversion of excess cholesterol to bile acids via both the 'neutral' (classic) and the 'acid' (alternative) pathways. May also regulate cholesterol homeostasis via generation of active oxysterols, which act as ligands for NR1H2 and NR1H3 nuclear receptors, modulating the transcription of genes involved in lipid metabolism. Plays a role in cholestanol metabolism in the cerebellum. Similarly to cholesterol, hydroxylates cholestanol and may facilitate sterol diffusion through the blood-brain barrier to the systemic circulation for further degradation. Also hydroxylates retinal 7-ketocholesterol, a noxious oxysterol with pro-inflammatory and pro-apoptotic effects, and may play a role in its elimination from the retinal pigment epithelium. May play a redundant role in vitamin D biosynthesis. Catalyzes 25-hydroxylation of vitamin D3 that is required for its conversion to a functionally active form.
  • 基因功能參考文獻(xiàn)：
    1. CYP27A1 SNPs are not associated with vitamin D status and multiple sclerosis. PMID: 30088172
    2. Vitamin D supplementation can decrease circulating 27HC of breast cancer patients, likely by CYP27A1 inhibition. This suggests a new and additional modality by which vitamin D can inhibit ER+ breast cancer growth, though a larger study is needed for verification. PMID: 29116467
    3. Whole-exome sequencing assuming recessive inheritance determined his genetic diagnosis to be cerebrotendinous xanthomatosis caused by homozygous mutations (c.410G>A or p.Arg137Gln) in the cytochrome P450 subfamily 27 A1 (CYP27A1) gene PMID: 29269672
    4. Three novel mutations in CYP27A1 were found in cerebrotendinous xanthomatosis patients in Chinese families PMID: 28623566
    5. Increased maternal and fetal cholesterol efflux capacity and placental CYP27A1 expression in preeclampsia PMID: 28396342
    6. Molecular study identified a novel homozygous frameshift mutation in CYP27A1 gene in cerebrotendinous xanthomatosis without cataract PMID: 28229379
    7. Cerebrotendinous xanthomatosis .. is caused by mutations in the CYP27A1 gene that result in decreased production of chenodeoxycholic acid (CDCA) and elevated levels of cholestanol and bile alcohols. Sequencing of CYP27A1 showed a paternally inherited splice mutation, c.446 + 1G>T, and a maternally inherited nonsense mutation, c.808C>T, predicting p.(Arg270*). PMID: 28590052
    8. we demonstrated the rare missense variant of CYP27A1 is associated with atopic dermatitis with elevated levels of total serum IgE. PMID: 27259383
    9. The 32 kb deleted region harbors the CYP2A7 gene and was enriched with enhancer, repressor and insulator sites. The wildtype allele was lost in the polyps of the proband PMID: 28306719
    10. CYP27A1 is a critical cellular cholesterol sensor in prostate cells and that dysregulation of the CYP27A1/27-hydroxycholesterol (27HC) axis contributes significantly to prostate cancer pathogenesis. PMID: 28130224
    11. CYP27A1 catalyzes hydroxylation of beta-sitosterol and ergosterol PMID: 26891232
    12. This study suggests a shared genetic etiology between MS and the characterized single-gene disorders, and highlights cholesterol metabolism and the synthesis of oxysterols as important biological mechanisms for familial MS PMID: 28337550
    13. CYP46A1 is involved in cholestanol removal from the brain and that several factors contribute to the preferential increase in cholestanol in the cerebellum arising from CYP27A1 deficiency. PMID: 28190002
    14. A significant decrease in the expression level of CYP27A1 in female patients could indicate their greater vulnerability to multiple sclerosis than the male patients. PMID: 27792005
    15. A novel mutation (c.1183_1184insT) in several members of a Colombian cerebrotendinous xanthomatosis family is responsible for mental retardation, psychiatric disorders, behavioral changes, and multiple domains cognitive impairment with dysexecutive dominance that progressed to early dementia. PMID: 26844446
    16. CYP27A1 belongs to the mitochondrial CYPs and plays a crucial role in the cholesterol homeostasis. PMID: 26638999
    17. Analysis of ~60,000 human exomes points to underdiagnosis of cerebrotendinous xanthomatosis due to CYP27A1 mutations. PMID: 26643207
    18. marinobufagenin is derived from bile acids and its biosynthesis is initiated by CYP27A1 enzyme PMID: 26374826
    19. The 25-hydroxylases CYP2R1 and CYP27A1 catalyze vitamin D to its circulating form 25-hydroxyvitamin D. PMID: 25845986
    20. In a patient with cerebrotendinous xanthomatosis, analysis of the CYP27A1 gene identified compound heterozygosity for p.A335V, a novel mutation. PMID: 25447658
    21. study describes two unrelated Sardinian families sharing the same CYP27A1 mutation, p.Arg479Cys; phenotype of the patients is characteristic of cerebrotendinous xanthomatosis PMID: 24584636
    22. The increased cutaneous CYP27B1 levels in the CKD patients suggest that the loss of renal activity of this enzyme is at least partially compensated for by the skin. PMID: 24029861
    23. Cyp27A1 mutations were identified in early onset CAD pedigree. PMID: 24080357
    24. Studied whether abnormal endometrial expression of CYP27A1 and/or CYP2R1 may impair VDR-antiproliferative properties in endometrial carcinoma. PMID: 24732451
    25. Data indicate that inhibition of CYP27A1 activity or knockdown and deletion of the Cyp27a1 gene induced adipocyte differentiation. PMID: 24280213
    26. The expression of CYP27A1 modulates the concentrations of active glucocorticoids in both humans and mice and in vitro. PMID: 24096962
    27. An alternative to elimination of brain cholesterol by the CYP46A1 mechanism is elimination by CYP27A1. PMID: 22185844
    28. This study has identified candidate genes for sporadic Amyotrophic lateral sclerosis( ALS), most notably CYP27A1. Mutations in CYP27A1 are causal to cerebrotendinous xanthomatosis which can present as a clinical mimic of ALS . PMID: 22509407
    29. study found that adenosine A2A receptor stimulation inhibited foam cell formation by a mechanism dependent on the expression of CYP27A1 PMID: 21258856
    30. Mutations consisting of c.1146_1151deletion-insertion and c.1214G>A substitution of CYP27A1 are identified in patients having cerebrotendinous xanthomatosis. PMID: 21958693
    31. CYP27A1 mutations were found in the proband and a Chinese family with Cerebrotendinous Xanthomatosis PMID: 22018287
    32. Sterol 27-hydroxylase cytochrome P450 27A1 (CYP27A1) is involved in elimination of 7-ketocholesterol from the retinal pigment epithelium. PMID: 21411718
    33. the post-translational modifications identified in CYP27A1 exemplify a general mechanism whereby oxidative stress and inflammation deleteriously affect protein function PMID: 21498512
    34. Four novel mutations located in different exons, in particular in the region of exons 2-5 of the CYP27A1 gene, present as classical cerebrotendinous xanthomatosis. PMID: 20402754
    35. The average P450 concentrations/mg of total tissue protein were 345 fmol of CYP46A1 and 110 fmol of CYP27A1 in the temporal lobe, and 60 fmol of CYP46A1 and 490 fmol of CYP27A1 in the retina. PMID: 21049985
    36. An Arg104Gln mutation in sterol 27-hydroxylase is identified in Japanese patients with cerebrotendinous xanthomatosis; case 1 is a compound heterozygote for Arg104Gln in exon 2 and Arg441Gln in exon 8. PMID: 20558929
    37. results indicate involvement of the JNK/c-jun pathway in AR-mediated upregulation of CYP27A1. The link to JNK signaling is interesting since inflammatory processes may upregulate CYP27A1 to clear cholesterol from peripheral tissues. PMID: 21134350
    38. down-regulation of genes involved in the cholesterol synthesis pathway results in down-regulation of CYP27A1 which diminishes oxysterol concentrations PMID: 20149624
    39. Overexpression of CYP27A1 in CHOP cells decreased progesterone conversion to 20alpha-DH-progesterone in a dose-dependent manner PMID: 19671838
    40. There needs to be a high level of suspicion of cerebrotendinous xanthomatosis (CXT) for any child with cataracts and developmental delay PMID: 20450308
    41. A Japanese patient with cerebrotendinous xanthomatosis has different mutations within two functional domains of CYP27. PMID: 11903362
    42. Endogenous CYP27A1 is of importance for the normal efflux of both cholesterol and cholestanol from tendons. PMID: 12117727
    43. levels of 27-hydroxycholesterol are not of critical importance for cholesterol homeostasis in mice. PMID: 12119285
    44. A compound heterozygous mutation in CYP27A1 (one missense mutation and one intronic nucleotide change) occurs in a Taiwanese family with cerebrotendinous xanthomatosis. PMID: 12242561
    45. The very high activity of CYP27A1 towards the cholestanol precursor 4-cholesten-3-one may be of importance in connection with the accumulation of cholestanol in patients with cerebrotendinous xanthomatosis PMID: 12777473
    46. The pathogenesis of cholesterolosis may be multifactorial, but is not caused by reduced efflux of cholesterol due to a defect sterol 27-hydroxylase mechanism. PMID: 14672608
    47. We reported a Hong Kong Chinese proband with Cerebrotendinous Xanthomatosis in which a novel acceptor splicing site mutation (IVS6-1G>T) was identified. PMID: 14741198
    48. nuclear receptor-regulated CYP27 expression is likely to be a key integrator of retinoic acid receptor-PPARgamma-LXR signaling, relying on natural ligands and contributing to lipid metabolism in macrophages PMID: 15340076
    49. stimulation of CYP27A1 by PPARgamma may represent a key previously unrecognized mechanism by which PPARgamma protects against atherosclerosis PMID: 15533057
    50. Data suggest that induction of sterol 27-hydroxylase (CYP27A1) by TGF-beta1 may be responsible for some of the anti-atherogenic properties of this cytokine. PMID: 15708352

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  • 相關(guān)疾病：
    Cerebrotendinous xanthomatosis (CTX)
  • 亞細(xì)胞定位：
    Mitochondrion inner membrane; Peripheral membrane protein.
  • 蛋白家族：
    Cytochrome P450 family
  • 組織特異性：
    Expressed in the neural retina and underlying retinal pigment epithelium (at protein level). Expressed in the gray and white matter of cerebellum (at protein level).
  • 數(shù)據(jù)庫鏈接：

    HGNC: 2605

    OMIM: 213700

    KEGG: hsa:1593

    STRING: 9606.ENSP00000258415

    UniGene: Hs.516700



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