COLQ anticorps (C-Term)
Aperçu rapide pour COLQ anticorps (C-Term) (ABIN1881222)
Antigène
Voir toutes COLQ AnticorpsReactivité
Hôte
Clonalité
Conjugué
Application
Clone
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Épitope
- AA 324-353, C-Term
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Homologie
- Rat
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Purification
- This antibody is purified through a protein A column, followed by peptide affinity purification.
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Immunogène
- This COLQ antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 324-353 amino acids from the C-terminal region of human COLQ.
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Isotype
- Ig Fraction
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Indications d'application
- WB: 1:1000
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Restrictions
- For Research Use only
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Format
- Liquid
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Buffer
- Purified polyclonal antibody supplied in PBS with 0.09 % (W/V) sodium azide.
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Agent conservateur
- Sodium azide
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Précaution d'utilisation
- This product contains Sodium azide: a POISONOUS AND HAZARDOUS SUBSTANCE which should be handled by trained staff only.
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Stock
- 4 °C,-20 °C
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Date de péremption
- 6 months
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: "Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes." dans: Brain : a journal of neurology, Vol. 131, Issue Pt 3, pp. 747-59, (2008) (PubMed).
: "Novel COLQ mutation 950delC in synaptic congenital myasthenic syndrome and symptomatic heterozygous relatives." dans: Neuromuscular disorders : NMD, Vol. 17, Issue 3, pp. 262-5, (2007) (PubMed).
: "Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency." dans: Neuromuscular disorders : NMD, Vol. 13, Issue 3, pp. 236-44, (2003) (PubMed).
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- COLQ (AChE Q Subunit (COLQ))
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Autre désignation
- COLQ
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Sujet
- This gene encodes the subunit of a collagen-like molecule associated with acetylcholinesterase in skeletal muscle. Each molecule is composed of three identical subunits. Each subunit contains a proline-rich attachment domain (PRAD) that binds an acetylcholinesterase tetramer to anchor the catalytic subunit of the enzyme to the basal lamina. Mutations in this gene are associated with endplate acetylcholinesterase deficiency. Multiple transcript variants encoding different isoforms have been found for this gene.
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Poids moléculaire
- 47766
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NCBI Accession
- NP_005668, NP_536799, NP_536800
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UniProt
- Q9Y215
Antigène
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