SMARCD1 is composed of 515 amino acids. It is a subunit of the SWI/SNF chromatin remodeling complex (also known as the BAF complex in mammals). This complex works to open chromatin for transcription-factor binding. Various mutations in SWI/SNF chromatin remodeling complex have been associated with neurodevelopmental disorders (NDDs).
Variants in SMARCD1 were clustered in its characteristic SWIB domain or in its three predicted coiled-coil domains. Two nonsense and three missense variants were identified. De novo mutations were identified in four of the five individuals (the father of the last individual was not available for testing).
Research on drosophila SMARCD1 ortholog, Bap60, suggest that Bap60 is required for normal memory, post-development, in adult neurons. Bap60 also regulates neurodevelopmental gene expression during the formation of neuronal circuits that are required for learning and memory.
SMARCD1