Actin-like protein 6B (ACTL6B)

Actin-like protein 6B (ACTL6B) is a member of the actin-related protein family that shares structural similarity with conventional actins, including an ATP-binding cleft. ACTL6B is the neuron-specific subunit of the BAF (SWI/SNF) chromatin remodeling complex in mammals, functionally recapitulating roles known from simpler organisms. It is required for postmitotic neural development, dendritic growth, and precise regulation of gene expression during neuronal maturation. The developmental switch from neural progenitor to postmitotic neurons involves substitution of ACTL6A/BAF53A with ACTL6B/BAF53B in the chromatin remodeling complex, which is essential for targeting key promoters and regulating neuronal gene expression. Clinical research has linked mutations in ACTL6B to profound neurodevelopmental impairment, intellectual disability, epileptic encephalopathy, and recessive forms of autism, often associated with abnormal brain structure (e.g., corpus callosum abnormalities), movement disorders, vision problems, and feeding difficulties. ACTL6B thus represents an emerging molecular target in neurogenetic disease research, though no approved pharmacological modulators exist. If further molecular structure, small molecules, or detailed druggability profiles are required, consult specialized protein, chemical, or drug databases as current clinical translation is very limited.

Other names

ACTL6BBAF53BSMARCN253 kDa BRG1-associated factor Bactin-related protein Baf53bArpNalphaBRG1-associated factor 53BDEE76 (Developmental and Epileptic Encephalopathy 76)EIEE76 (Early Infantile Epileptic Encephalopathy 76)IDDSSAD (Intellectual Developmental Disorder With Severe Speech And Ambulation Defects)hArpN alpha

No clinically approved drugs to date target ACTL6B directly; hypothetical mechanisms would involve modulation of chromatin remodeling activity or gene expression in neurons