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Chromodomain Helicase DNA Binding Protein 7 (CHD7)

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ATP-dependent helicase CHD7

Chromodomain Helicase DNA Binding Protein 7 (CHD7)
CCC D203
HGNC 20626
MGI 2444748
PubMed 20657823
RGD 1311921
UniProt Q9P2D1
Wiki CHD7
Using in situ hybridization, Sanlaville et al. (2006) analyzed the expression pattern of the CHD7 gene during early human development in normal human embryos and fetal tissues obtained after elective termination of pregnancy and found that CHD7 is widely expressed in undifferentiated neuroepithelium and in mesenchyme of neural crest origin. Towards the end of the first trimester it is expressed in dorsal root ganglia, cranial nerves and ganglia, and auditory, pituitary, and nasal tissues as well as in the neural retina.
Sanlaville et al. (2006) noted that there was good correlation between the CHD7 expression pattern and the developmental anomalies observed in CHARGE syndrome .

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Chromodomain Helicase DNA Binding Protein 7 (CHD7) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Chromodomain Helicase DNA Binding Protein 7 (CHD7) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Chromodomain Helicase DNA Binding Protein 7 (CHD7) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Chromodomain Helicase DNA Binding Protein 7 (CHD7) CLIA Kit Customized Service Offer
n/a ELISA Kit for Chromodomain Helicase DNA Binding Protein 7 (CHD7) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Chromodomain Helicase DNA Binding Protein 7 (CHD7) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Chromodomain Helicase DNA Binding Protein 7 (CHD7) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Chromodomain Helicase DNA Binding Protein 7 (CHD7) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Chromodomain Helicase DNA Binding Protein 7 (CHD7) CLIA Kit Customized Service Offer
n/a ELISA Kit for Chromodomain Helicase DNA Binding Protein 7 (CHD7) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Chromodomain Helicase DNA Binding Protein 7 (CHD7) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Chromodomain Helicase DNA Binding Protein 7 (CHD7) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Chromodomain Helicase DNA Binding Protein 7 (CHD7) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Chromodomain Helicase DNA Binding Protein 7 (CHD7) CLIA Kit Customized Service Offer
n/a ELISA Kit for Chromodomain Helicase DNA Binding Protein 7 (CHD7) ELISA Kit Customized Service Offer
  1. "DNA sequence and analysis of human chromosome 8." Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
  2. "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro."DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract]
  3. "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  6. "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage."Science 316:1160-1166(2007) [PubMed] [Europe PMC] [Abstract]
  7. "A quantitative atlas of mitotic phosphorylation."Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
  8. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
  9. "CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome."Hum. Mol. Genet. 19:2858-2866(2010) [PubMed] [Europe PMC] [Abstract]
  10. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
  11. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  12. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
  13. "Identification of CHD7S as a novel splicing variant of CHD7 with functions similar and antagonistic to those of the full-length CHD7L."Genes Cells 17:536-547(2012) [PubMed] [Europe PMC] [Abstract]
  14. "CHD7 gene and non-syndromic cleft lip and palate."Am. J. Med. Genet. A 140:2110-2114(2006) [PubMed] [Europe PMC] [Abstract]
  15. "Mutation update on the CHD7 gene involved in CHARGE syndrome."Hum. Mutat. 33:1149-1160(2012) [PubMed] [Europe PMC] [Abstract]
  16. "Solution structure of the BRK domains from CHD7."J. Mol. Biol. 371:1135-1140(2007) [PubMed] [Europe PMC] [Abstract]
  17. "Mutations in a new member of the chromodomain gene family cause CHARGE syndrome."Nat. Genet. 36:955-957(2004) [PubMed] [Europe PMC] [Abstract]
  18. "Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation."Am. J. Hum. Genet. 78:303-314(2006) [PubMed] [Europe PMC] [Abstract]
  19. "CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis."Am. J. Hum. Genet. 80:957-965(2007) [PubMed] [Europe PMC] [Abstract]
  20. "Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome."Am. J. Hum. Genet. 83:511-519(2008) [PubMed] [Europe PMC] [Abstract]
  21. "Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability."Am. J. Med. Genet. A 146:43-50(2008) [PubMed] [Europe PMC] [Abstract]
  22. "CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome."Clin. Genet. 74:31-38(2008) [PubMed] [Europe PMC] [Abstract]
  23. "CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome."Clin. Genet. 75:65-71(2009) [PubMed] [Europe PMC] [Abstract]
  24. "Mutations in the CHD7 gene: the experience of a commercial laboratory."Genet. Test. Mol. Biomarkers 14:881-891(2010) [PubMed] [Europe PMC] [Abstract]
  25. "CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome."PLoS ONE 6:E24511-E24511(2011) [PubMed] [Europe PMC] [Abstract]
  26. "CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin."Clin. Genet. 81:234-239(2012) [PubMed] [Europe PMC] [Abstract]
  27. "Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome."Clin. Genet. 83:125-134(2013) [PubMed] [Europe PMC] [Abstract]
  28. "The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients." J. Clin. Endocrinol. Metab. 99:E2138-2143(2014) [PubMed] [Europe PMC] [Abstract]