Cholinergic Receptor, Nicotinic, Delta (CHRNd)

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CHR-ND; CHRN-d; NAChRD; N-AChRD; N-AChR-D; ACHRD; CMS2A; FCCMS; SCCMS; Neuronal Acetylcholine Receptor Delta

Cholinergic Receptor, Nicotinic, Delta (CHRNd)

The delta gene was assigned by in situ hybridization to 2q31-q34. All pairs of RFLPs were analyzed for linkage disequilibrium. Of the 16 pairs of RFLPs from the same gene or from the linked gamma and delta genes, 13 showed evidence of significant disequilibrium (P less than 0.05). By Southern analysis of a panel of somatic cell hybrids and by in situ hybridization, Beeson et al. (1990) assigned the CHRND gene to 2q33-qter. Together with the earlier information, this suggests a location of 2q33-q34. Work of Pasteris et al. (1993) suggested a more distal location; a molecular analysis of a chromosome 2 deletion mapping panel suggested the following order: cen--PAX3--COL4A3--CHRND--tel. PAX3 is located in band 2q35 and COL4A3  is located in band 2q36.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Cholinergic Receptor, Nicotinic, Delta (CHRNd) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Cholinergic Receptor, Nicotinic, Delta (CHRNd) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Cholinergic Receptor, Nicotinic, Delta (CHRNd) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Cholinergic Receptor, Nicotinic, Delta (CHRNd) CLIA Kit Customized Service Offer
n/a ELISA Kit for Cholinergic Receptor, Nicotinic, Delta (CHRNd) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Cholinergic Receptor, Nicotinic, Delta (CHRNd) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Cholinergic Receptor, Nicotinic, Delta (CHRNd) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Cholinergic Receptor, Nicotinic, Delta (CHRNd) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Cholinergic Receptor, Nicotinic, Delta (CHRNd) CLIA Kit Customized Service Offer
n/a ELISA Kit for Cholinergic Receptor, Nicotinic, Delta (CHRNd) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Cholinergic Receptor, Nicotinic, Delta (CHRNd) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Cholinergic Receptor, Nicotinic, Delta (CHRNd) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Cholinergic Receptor, Nicotinic, Delta (CHRNd) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Cholinergic Receptor, Nicotinic, Delta (CHRNd) CLIA Kit Customized Service Offer
n/a ELISA Kit for Cholinergic Receptor, Nicotinic, Delta (CHRNd) ELISA Kit Customized Service Offer
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  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
  4. "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]
  5. "New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome."Hum. Mol. Genet. 5:1217-1227(1996) [PubMed] [Europe PMC] [Abstract]
  6. "Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms."Ann. Neurol. 51:102-112(2002) [PubMed] [Europe PMC] [Abstract]
  7. "Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita."J. Clin. Invest. 108:125-130(2001) [PubMed] [Europe PMC] [Abstract]
  8. "Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation."Neurology 59:1881-1888(2002) [PubMed] [Europe PMC] [Abstract]
  9. "The consensus coding sequences of human breast and colorectal cancers." Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
  10. "Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders." Am. J. Hum. Genet. 82:464-476(2008) [PubMed] [Europe PMC] [Abstract]