Recombinant Human Chromodomain-helicase-DNA-binding protein 2 (CHD2), partial

Code CSB-YP005327HU
MSDS
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Source Yeast
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Code CSB-EP005327HU
MSDS
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Source E.coli
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Code CSB-EP005327HU-B
MSDS
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Source E.coli
Conjugate 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.
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Code CSB-BP005327HU
MSDS
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Source Baculovirus
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Code CSB-MP005327HU
MSDS
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
Uniprot No.
Alternative Names
2810013C04Rik; 2810040A01Rik; 5630401D06Rik; AI851092; ATP dependent helicase CHD2; ATP-dependent helicase CHD2; BC029703; CHD 2; CHD-2; CHD2; CHD2_HUMAN; chromodomain helicase dna binding protein; Chromodomain-helicase-DNA-binding protein 2; DKFZp547I1315; DKFZp686E01200 ; DKFZP781D1727; EC 3.6.1.-; EEOC; FLJ38614
Species
Homo sapiens (Human)
Protein Length
Partial
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.
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.

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Target Background

Function
DNA-binding helicase that specifically binds to the promoter of target genes, leading to chromatin remodeling, possibly by promoting deposition of histone H3.3. Involved in myogenesis via interaction with MYOD1: binds to myogenic gene regulatory sequences and mediates incorporation of histone H3.3 prior to the onset of myogenic gene expression, promoting their expression.
Gene References into Functions
  1. Germline mosaicism resulted in a CHD2 gene missense variant and the development of autism spectrum disorder in two siblings. PMID: 28960266
  2. study reports monozygotic twins with a global neurodevelopmental delay associated with an autism spectrum disorder, hypotonia, postnatal microcephaly, stereotypic movements and circadian rhythm alterations in association with late-onset epilepsy; identified a CHD2 mutation, previously described in association with a phenotypic spectrum overlapping our patients' phenotype PMID: 26754451
  3. Results indicate a PARP1-dependent mechanism that regulates non-homologous end-joining through localized chromatin expansion and deposition of the histone variant H3.3 by CHD2 at DNA breaks promoting DNA repair. PMID: 26895424
  4. CHD2 mutations are responsible in rare cases for generalized epilepsy with myoclonic-atonic seizures. PMID: 26262932
  5. CHD2 is a cancer driver and has a role as chromatin remodeler in chronic lymphocytic leukemia. PMID: 26031915
  6. CHD2 mutation is the first identified cause of the archetypal generalized photosensitive epilepsy syndrome PMID: 25783594
  7. The phenotypic spectrum of CHD2 encephalopathy has distinctive features of myoclonic epilepsy with marked photosensitivity. PMID: 25672921
  8. Human CHD2 is a chromatin assembly ATPase regulated by its chromatin- and DNA-binding domains. PMID: 25384982
  9. Our findings suggest that CHD2 mutations are important in the etiological spectrum of Lennox-Gastaut syndrome. PMID: 24614520
  10. De novo loss-of-function mutations in CHD2 are a cause of epileptic encephalopathy with generalized seizures. PMID: 24207121
  11. De novo CHD2 and SYNGAP1 mutations are new causes of epileptic encephalopathies, accounting for 1.2% and 1% of cases, respectively. PMID: 23708187
  12. detected a homozygous deletion of chromosomal region 15q26.2 in the cell line HDLM2 encompasing RGMA and CHD2 PMID: 17606441

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Involvement in disease
Epileptic encephalopathy, childhood-onset (EEOC)
Subcellular Location
Nucleus.
Protein Families
SNF2/RAD54 helicase family
Database Links

HGNC: 1917

OMIM: 602119

KEGG: hsa:1106

STRING: 9606.ENSP00000377747

UniGene: Hs.220864

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