Recombinant Human 3-beta-hydroxysteroid-Delta (8),Delta (7)-isomerase (EBP)

Code CSB-CF624016HU
MSDS
Size Pls inquire
Source in vitro E.coli expression system
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Product Details

Target Names
EBP
Uniprot No.
Alternative Names
EBP; 3-beta-hydroxysteroid-Delta(8,Delta(7-isomerase; Cholestenol Delta-isomerase; Delta(8-Delta(7 sterol isomerase; D8-D7 sterol isomerase; Emopamil-binding protein
Species
Homo sapiens (Human)
Expression Region
2-230
Target Protein Sequence
TTNAGPLHPYWPQHLRLDNFVPNDRPTWHILAGLFSVTGVLVVTTWLLSGRAAVVPLGTW RRLSLCWFAVCGFIHLVIEGWFVLYYEDLLGDQAFLSQLWKEYAKGDSRYILGDNFTVCM ETITACLWGPLSLWVVIAFLRQHPLRFILQLVVSVGQIYGDVLYFLTEHRDGFQHGELGH PLYFWFYFVFMNALWLVLPGVLVLDAVKHLTHAQSTLDAKATKAKSKKN
Protein Length
Full Length of Mature Protein
Tag Info
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.
Form
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.
Buffer before Lyophilization
Tris/PBS-based buffer, 6% Trehalose, pH 8.0
Reconstitution
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.
Troubleshooting and FAQs
Storage Condition
Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life
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.
Lead Time
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.
Notes
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.

Customer Reviews and Q&A

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Target Background

Function
Catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers.
Gene References into Functions
  1. This study expands the current phenotypic spectrum of males with hypomorphic EBP mutations and supports to the hypothesis that there exists an X-linked recessive entity independent of CDPX2. PMID: 24700572
  2. Mutation analysis revealed a heterozygous novel missense mutation, c.204G>T (p.W68C), in exon 2. PMID: 24915996
  3. With non-mosaic EBP mutations in males. PMID: 24459067
  4. Report steroidomimetic aminomethyl spiroacetals as novel inhibitors of the enzyme Delta8,7-sterol isomerase in cholesterol biosynthesis. PMID: 24493593
  5. Elastin binding protein and FKBP65 modulate the kinetics of self-assembly of tropoelastin in an in vitro system. PMID: 24106871
  6. Results show a clear relationship between abnormal sterol profile and the EBP gene mutation PMID: 22121851
  7. postzygotic mosaicism on an ichthyosiform skin lesion in the mother of a girl with X-linked dominant chondrodysplasia punctata associated with a novel EBP mutation. PMID: 21931045
  8. Molecular analysis of EBP mutations were made. PMID: 17378690
  9. Emopamil binding protein (EBP)-shRNA sequences were designed and tested for their effectiveness. PMID: 17498944
  10. We found two novel (3G-->T and 419-422delTTCT) and one known mutation in the EBP gene. The strong phenotypic variability in our patients suggests that there is no clear genotype-phenotype correlation. PMID: 17949453
  11. two unrelated Thai girls with chondrodysplasia punctata type 2. Mutation analysis by PCR-sequencing the entire coding region of emopamil binding protein(EBP) successfully revealed two potentially pathogenic, novel mutations, c.616G-->T and c.382delC. PMID: 18573709

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Involvement in disease
Chondrodysplasia punctata 2, X-linked dominant (CDPX2); MEND syndrome (MEND)
Subcellular Location
Endoplasmic reticulum membrane; Multi-pass membrane protein. Nucleus envelope. Cytoplasmic vesicle.
Protein Families
EBP family
Database Links

HGNC: 3133

OMIM: 300205

KEGG: hsa:10682

STRING: 9606.ENSP00000417052

UniGene: Hs.30619

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