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Validated All-in-One™ qPCR Primer for CHD7(NM_017780.4) Search again
Product ID:
HQP178157
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
CRG, HH5, IS3, KAL5
Gene Description:
chromodomain helicase DNA binding protein 7
Target Gene Accession:
NM_017780.4(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Summary
This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome. [provided by RefSeq].
Gene References into function
- Sequence analysis of genes located in this region detected mutations in the gene CHD7 in 10 of 17 individuals with CHARGE syndrome without microdeletions.
- Disruption of this gene is the cause of CHARGE syndrome in twins and independently confirms the role of CHD7 in CHARGE syndrome.
- phenotypic spectrum of developmental anomalies resulting from CHD7 dysfunction.
- The large number human de novo mutations may be due to the combination of the Chd7 gene being a large target and the fact that many heterozygous carriers of the mutations are viable individuals with a readily detectable phenotype
- Cardiovascular malformations, coloboma, and facial asymmetry are common findings in CHARGE syndrome caused by CHD7 mutation.
- sequenced selected CHD7 exons in non-syndromic clefting cases from Iowa and Philippines populations, as well as matched controls. Variants in non-syndromic cases were found, however, the numbers were not statistically different from the controls.
- Implementation of screening method for CHD7 gene and diagnosis of CHARGE syndrome.
- We will discuss here recent aspects of the phenotypic delineation of CHARGE syndrome and highlight the role of CHD7 in its pathogeny.
- linkage and association with 8q12 loci in idiopathic scoliosis
- NMR analysis of the the BRK domains from CHD7 shows that each domain has a compact betabetaalphabeta fold and the second domain has a C-terminal extension consisting of two additional helices
- these familial reports describe the intrafamilial variability of CHARGE syndrome, and underline the presence of CHD7 mutations in patients who do not fit the 'classical clinical criteria' for CHARGE syndrome
- mutation detection rate of 40.5% is reflective of screening an unselected sample population referred for CHD7 testing based on suspected clinical diagnosis of CHARGE syndrome
- Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability.
- CHD7 mutations were detected in a large proportion (64%) of cases diagnosed with CHARGE syndrome
- exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome
- R2319C mutation in the CHD7 gene is associated with ophthalmic morphologic anomalies in CHARGE syndrome
- study describes four patients with mutations in CHD7, who had clinical features of CHARGE syndrome and who had T-B + NK + SCID (two patients) or clinical features consistent with Omenn syndrome (two patients)
- CHD7 represents the first identified chromatin-remodeling protein with a role in human puberty and the second gene to cause both normosmic idiopathic hypogonadotropic hypogonadism and Kallmann syndrome in humans
- CHD7 mutations can be present in Kallmann syndrome patients who have additional features that are part of the CHARGE syndrome phenotype
- the germline mutations of the CHD7 gene and their roles in patients with congenital heart disease (CHD)