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The protein encoded by ACTL6B is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Zusätzlich bieten wir Ihnen Actin-Like 6B Proteine (4) und viele weitere Produktgruppen zu diesem Protein an.
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provide additional genetic and clinical data on three new cases that support the pathogenic role of ACTL6B gene mutation in a syndromic form of Developmental and epileptic encephalopathies.
Missense Mutation in ACTL6B gene is associated with Neurodevelopmental Disorders.
we identified BAF53b as a neuron-specific subunit of the chromatin remodeling BAF complexes.
Data suggest that SWI/SNF complexes containing ArpN alpha might regulate certain genes involved in brain development and/or its function differently from SWI/SNF complexes containing ArpN beta/BAF53.
Results show that deleting HDAC3 can ameliorate the impairments in both long-term memory and synaptic plasticity caused by BAF53b mutation. This suggests a dynamic interplay exists between histone acetylation/deacetylation and nucleosome remodeling mechanisms in the regulation of memory formation.
This study demonstrated that Mutation of neuron-specific chromatin remodeling subunit BAF53b showed impairments in phosphorylation of synaptic cofilin, LTP, and memory.
Using specific gene knockdown or overexpression approaches, we identify the critical role of BAF53b in the lateral amygdala neurons for memory consolidation during long-term memory formation.
This study provided new insight into the role of dominant mutations in subunits of BAF complexes in human intellectual and cognitive disorders.
BAF53b is combinatorially assembled into polymorphic complexes with ubiquitous subunits including the two ATPases BRG1 and BRM
The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a subunit of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila\; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. This subunit may be involved in the regulation of genes by structural modulation of their chromatin, specifically in the brain.
, actin-like protein 6B-like
, 53 kDa BRG1-associated factor B
, BRG1-associated factor 53B
, actin-like 6
, actin-like protein 6B
, actin-related protein Baf53b
, hArpN alpha