BackgroundDefects in COX6B1 are a cause of mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]; also known as cytochrome c oxidase deficiency. A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, excercise intolerance, developmental delay, delayed motor development and mental retardation. A subset of patients manifest Leigh syndrome.
DescriptionCOX6B1 Polyclonal Antibody. Unconjugated. Raised in: Rabbit.
FormulationLiquid. 0.03% Proclin 300, 50% Glycerol, 0.01M PBS, PH 7.4.
SpecificityHuman
IsotypeIgG
Uniprot IDP14854
Purification>95%, Protein G purified
ImmunogenRecombinant Human Cytochrome c oxidase subunit 6B1 protein (1-86AA)
StorageShipped at 4°C. Upon delivery aliquot and store at -20°C (short-term) or -80°C (long-term). Avoid repeated freeze.
ApplicationELISA, IF; Recommended dilution: IF:1:50-1:200