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DEE76

Chr 7

actin like 6B

Also known as: ACTL6, BAF53B, DEE76, EIEE76, IDDSSAD, SMARCN2, arpNalpha

NCBI Gene: 51412

This gene encodes a subunit of the BAF chromatin remodeling complex that facilitates transcriptional activation by modifying chromatin structure, with specific roles in brain gene regulation. Biallelic mutations cause developmental and epileptic encephalopathy 76, an autosomal recessive condition characterized by early-onset seizures and developmental impairment. The disorder primarily affects the central nervous system with both epileptic and neurodevelopmental features.

ResearchSummary from RefSeq, OMIM

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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

ResearchGenerating clinical summary…

Clinical Summary— DEE76

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Some data sources returned errors (3)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/DEE76?content-type=application/json&expand=1

gnomad: Error: Gene not found

omim: Error: OMIM fetch failed: 429