CHD8 Recombinant antibody

Chromodomain helicase domain 8 (CHD8) is one of the most frequently mutated and most penetrant genes in the autism spectrum disorder (ASD). CHD8 is located on 14q11.2. It is part of the SNF2H-like ATP-dependent chromatin remodeling enzymes family referred to as CHD (chromodomain helicase DNA binding). CHD8 has two isoforms: CHD8L, a full-length protein of 280 kDa; and CHD8S (Duplin), a 110 kDa protein of the NH2-terminal chromodomain region resulting from alternative splicing (PMID:19151705). CHD8 is essential for development, as homozygote mutant mice die at an embryonic stage. CHD8 is expressed in the mouse at the embryonic stage (E12.5) in different levels in wide regions of the brain (neocortex, forebrain, ventricular, subventricular and mantle zones, rhombic lip (RL), and the isthmus of the cerebellum, as well as in lower RL and floor plate region of the hindbrain, midbrain, diencephalon, hypothalamus, pituitary gland, craniofacial region, and tongue and olfactory epithelium). In the postnatal mouse brain (P20), CHD8 is expressed in the cerebellum, neocortex, hippocampus, hypothalamus, and olfactory bulb (PMID:30277262). Peak expression levels were observed at E18-P7, then gradually decreased to adulthood. Highest expression was found in neurons, and lower levels in astrocyte and astroglia (PMID:30574290). In the mouse, CHD8 is expressed higher in brain compared to other tissues and in the embryo, compared to adult.