Zitiert in 3+ Publikationen.
Der Kaninchen Polyklonal anti-COLQ Antikörper (Klon RB30589) (ABIN1881222) detektiert spezifisch COLQ in WB.
Dieser Antikörper reagiert spezifisch mit Proben aus Human und Maus.
This antibody is purified through a protein A column, followed by peptide affinity purification.
Immunogen
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.
Ishigaki, Nicolle, Krejci, Leroy, Koenig, Fardeau, Eymard, Hantaï: "Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency." in: Neuromuscular disorders : NMD, Vol. 13, Issue 3, pp. 236-44, (2003) (PubMed).
Target
COLQ
(AChE Q Subunit (COLQ))
Andere Bezeichnung
COLQ
Hintergrund
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.