Function
Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Belongs to the neuron-specific chromatin remodeling complex (nBAF complex), as such plays a role in remodeling mononucleosomes in an ATP-dependent fashion, and is required for postmitotic neural development and dendritic outgrowth.
Biological Context
Subcellular Location: Nucleus
Disease Association: Developmental and epileptic encephalopathy 76 (DEE76) : A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE76 is an autosomal recessive form that may result in death in childhood. [The disease is caused by variants affecting the gene represented in this entry] | Intellectual developmental disorder with severe speech and ambulation defects (IDDSSAD) : An autosomal dominant neurodevelopmental disorder with onset in infancy, and characterized by global developmental delay, intellectual disability, ambulation deficits, severe language impairment, and minor dysmorphic features including a wide mouth, diastema, and bulbous nose. Additional manifestations are spasticity, hypotonia and autistic features including stereotypies. Brain imaging show thin corpus callosum, generalized atrophy, and mild periventricular gliosis. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Actin-like protein 6B (ACTL6B) is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 1-426aa, with C-terminal 6xHis-Flag-tagged tag, molecular weight 48.8kDa, purity Greater than 90% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
